ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
RASopathy
VCEP
RASopathy VCEP
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006807 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00006784 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992304C>T , CM000684.2:g.20992304C>T | GRCh38 |
| NC_000022.10:g.21346593C>T , CM000684.1:g.21346593C>T | GRCh37 |
| NC_000022.9:g.19676593C>T | NCBI36 |
| NG_034193.1:g.15036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1084C>T | ENSP00000515073.1:p.Arg362Ter | |
| ENST00000495142.6:n.429C>T | ||
| ENST00000642151.1:c.915C>T | ||
| ENST00000643578.1:n.1106C>T | ||
| ENST00000646124.2:c.1084C>T MANE Select | ENSP00000496779.1:p.Arg362Ter | |
| ENST00000646506.1:n.663C>T | ||
| ENST00000215739.12:c.1084C>T | ENSP00000215739.8:p.Arg362Ter | |
| ENST00000461510.1:n.185C>T | ||
| ENST00000479606.5:n.1230C>T | ||
| ENST00000492480.1:n.140C>T | ||
| ENST00000497716.5:n.911C>T | ||
| NM_006767.3:c.1084C>T | NP_006758.2:p.Arg362Ter | |
| NM_006767.4:c.1084C>T MANE Select | NP_006758.2:p.Arg362Ter |