Allele Registry

Canonical Allele Identifier: CA1114285

Gene: LORICRIN HGNC NCBI

COSMIC:

COSM3747558 (not active)

MyVariant.info:

GRCh38 chr1:g.153261034A>G

GRCh38 chr1:g.153261034_153261049delinsGGCGGCGGTGGTGGCT

GRCh37 chr1:g.153233510A>G

GRCh37 chr1:g.153233510_153233525delinsGGCGGCGGTGGTGGCT

Revel Score:

ENST00000368742 (MANE Select) 0.107

ENST00000392652 0.107

gnomAD v2:

1:153233510 A / G

gnomAD v3:

1:153261034 A / G

gnomAD v4:

chr1-153261034-A-G

Joint Max Group AF 0.39427621 (NFE)

Genomes Max Group AF 0.38851279 (NFE)

Exomes Max Group AF 0.39441259 (NFE)

ClinVar RCV:

RCV001669938

ClinVar Variation:

1262705

dbSNP:

6661601