{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259716", "communityStandardTitle": [ "NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38923[alleleid]", "alleleId": 38923, "preferredName": "NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29968", "RCV": [ "RCV000022860" ], "variationId": 29968 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.63005022G>A?assembly=hg19", "id": "chrX:g.63005022G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.63785142G>A?assembly=hg38", "id": "chrX:g.63785142G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514460", "rs": 397514460 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-63785142-G-A?dataset=gnomad_r4", "id": "X-63785142-G-A", "variant": "X:63785142 G / A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 63785142, "referenceAllele": "G", "start": 63785141 } ], "hgvs": [ "NC_000023.11:g.63785142G>A", "CM000685.2:g.63785142G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 63005022, "referenceAllele": "G", "start": 63005021 } ], "hgvs": [ "NC_000023.10:g.63005022G>A", "CM000685.1:g.63005022G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 62921747, "referenceAllele": "G", "start": 62921746 } ], "hgvs": [ "NC_000023.9:g.62921747G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 5405, "referenceAllele": "C", "start": 5404 } ], "hgvs": [ "NG_016975.1:g.5405C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003344" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000671741.2:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000500715.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000500715.1:p.Gln2_Lys523delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000671741.2:c.4C>T" }, "RefSeq": { "hgvs": "NM_001353921.2:c.4C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000500715.1:p.Gln2Ter" }, "RefSeq": { "hgvs": "NP_001340850.1:p.Gln2Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000672467.1:n.73C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773393" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000374878.5:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000364012.2:p.Gln2Ter", "hgvsWellDefined": "ENSP00000364012.2:p.Gln2_Ser487delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysLeuProPheProGlnLeuSerGluAlaArgIleCysSerProLysGlyPheAlaSerValPheAsnGlyThrCysCysGlyGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270464" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000437457.6:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000399994.3:p.Gln2Ter", "hgvsWellDefined": "ENSP00000399994.3:p.Gln2_Ala483delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyGlyThrGlyGluGlyGluIleGluPheValGlyPhePheAlaGlyProThrProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294473" }, { "coordinates": [ { "allele": "T", "end": 133, "endIntronDirection": "+", "endIntronOffset": 10374, "referenceAllele": "C", "start": 133, "startIntronDirection": "+", "startIntronOffset": 10373 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000623417.3:c.-118+10374C>T" ], "proteinEffect": { "hgvs": "ENSP00000485083.1:n.-118+10374C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS406076" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000623517.3:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000485369.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000485369.1:p.Gln2_Lys463delinsTrpIleArgGlyGlySerGlyMetLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406101" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000624355.1:c.-158C>T" ], "proteinEffect": { "hgvs": "ENSP00000485327.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS406308" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "ENST00000625116.3:c.-221C>T" ], "proteinEffect": { "hgvs": "ENSP00000485160.1:n.-221C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS406517" }, { "@id": "http://reg.genome.network/allele/PA259717", "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001173479.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001166950.1:p.Gln2Ter", "hgvsWellDefined": "NP_001166950.1:p.Gln2_Lys463delinsTrpIleArgGlyGlySerGlyMetLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015598" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "XM_005262249.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_005262306.1:p.Gln2Ter", "hgvsWellDefined": "XP_005262306.1:p.Gln2_Lys523delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063381" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "XM_005262252.1:c.-158C>T" ], "proteinEffect": { "hgvs": "XP_005262309.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS063384" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001330495.1:c.-158C>T" ], "proteinEffect": { "hgvs": "NP_001317424.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS516870" }, { "@id": "http://reg.genome.network/allele/PA2827744331", "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001353921.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001340850.1:p.Gln2Ter", "hgvsWellDefined": "NP_001340850.1:p.Gln2_Lys523delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522038" }, { "@id": "http://reg.genome.network/allele/PA916036296", "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001353922.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001340851.1:p.Gln2Ter", "hgvsWellDefined": "NP_001340851.1:p.Gln2_Lys479delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522039" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "XM_017029378.2:c.4C>T" ], "proteinEffect": { "hgvs": "XP_016884867.1:p.Gln2Ter", "hgvsWellDefined": "XP_016884867.1:p.Gln2_Cys362delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysGlnMetCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578927" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "XM_024452358.1:c.-158C>T" ], "proteinEffect": { "hgvs": "XP_024308126.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585853" }, { "@id": "http://reg.genome.network/allele/PA259717", "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001173479.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001166950.1:p.Gln2Ter", "hgvsWellDefined": "NP_001166950.1:p.Gln2_Lys463delinsTrpIleArgGlyGlySerGlyMetLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678816" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001330495.2:c.-158C>T" ], "proteinEffect": { "hgvs": "NP_001317424.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS686972" }, { "@id": "http://reg.genome.network/allele/PA2827744331", "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001353921.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001340850.1:p.Gln2Ter", "hgvsWellDefined": "NP_001340850.1:p.Gln2_Lys523delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluGlyGluAspIleLeuAspArgSerSerGluLeuIleTyrThrGlyGluMetAlaTrpIleTyrGlnProTyrGlyArgAsnGlnGlnArgValPhePheLeuPheAspHisGlnMetValLeuCysLysLysAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689986", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000671741.2:c.4C>T" }, "RefSeq": { "hgvs": "NM_001353921.2:c.4C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000500715.1:p.Gln2Ter" }, "RefSeq": { "hgvs": "NP_001340850.1:p.Gln2Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916036296", "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001353922.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001340851.1:p.Gln2Ter", "hgvsWellDefined": "NP_001340851.1:p.Gln2_Lys479delinsTrpIleArgGlyGlySerGlyMetLeuIleThrGlyAspSerIleValSerAlaGluAlaValTrpAspHisValThrMetAlaAsnArgGluLeuAlaPheLysAlaGlyAspValIleLysValLeuAspAlaSerAsnLysAspTrpTrpTrpGlyGlnIleAspAspGluGluGlyTrpPheProAlaSerPheValArgLeuTrpValAsnGlnGluAspGluValGluGluGlyProSerAspValGlnAsnGlyHisLeuAspProAsnSerAspCysLeuCysLeuGlyArgProLeuGlnAsnArgAspGlnMetArgAlaAsnValIleAsnGluIleMetSerThrGluArgHisTyrIleLysHisLeuLysAspIleCysGluGlyTyrLeuLysGlnCysArgLysArgArgAspMetPheSerAspGluGlnLeuLysValIlePheGlyAsnIleGluAspIleTyrArgPheGlnMetGlyPheValArgAspLeuGluLysGlnTyrAsnAsnAspAspProHisLeuSerGluIleGlyProCysPheLeuGluHisGlnAspGlyPheTrpIleTyrSerGluTyrCysAsnAsnHisLeuAspAlaCysMetGluLeuSerLysLeuMetLysAspSerArgTyrGlnHisPhePheGluAlaCysArgLeuLeuGlnGlnMetIleAspIleAlaIleAspGlyPheLeuLeuThrProValGlnLysIleCysLysTyrProLeuGlnLeuAlaGluLeuLeuLysTyrThrAlaGlnAspHisSerAspTyrArgTyrValAlaAlaAlaLeuAlaValMetArgAsnValThrGlnGlnIleAsnGluArgLysArgArgLeuGluAsnIleAspLysIleAlaGlnTrpGlnAlaSerValLeuAspTrpGluAspLeuIleArgArgAspIleLeuTyrTyrLysGlyArgIleAspMetAspLysTyrGluValValAspIleGluAspGlyArgAspAspAspPheAsnValSerMetLysAsnAlaPheLysLeuHisAsnLysGluThrGluGluIleHisLeuPhePheAlaLysLysLeuGluGluLysIleArgTrpLeuArgAlaPheArgGluGluArgLysMetValGlnGluAspGluLysIleGlyPheGluIleSerGluAsnGlnLysArgGlnAlaAlaMetThrValArgLysValProLysGlnLysGlyValAsnSerAlaArgSerValProProSerTyrProProProGlnAspProLeuAsnHisGlyGlnTyrLeuValProAspGlyIleAlaGlnSerGlnValPheGluPheThrGluProLysArgSerGlnSerProPheTrpGlnAsnPheSerArgLeuThrProPheLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689987" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN014561", "geneNCBI_id": 23229, "geneSymbol": "ARHGEF9", "hgvs": [ "NM_001369043.1:c.-158C>T" ], "proteinEffect": { "hgvs": "NP_001355972.1:n.-158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691526" } ], "type": "nucleotide" }