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rs62625306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 BRCA1 pathogenic mutation associated with breast cancer
Make rs62625306(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093142
GeneBRCA1
is asnp
is mentioned by
dbSNPrs62625306
ebirs62625306
HLIrs62625306
Exacrs62625306
Varsomers62625306
Maprs62625306
PheGenIrs62625306
hapmaprs62625306
1000 genomesrs62625306
hgdprs62625306
ensemblrs62625306
gopubmedrs62625306
geneviewrs62625306
scholarrs62625306
googlers62625306
pharmgkbrs62625306
gwascentralrs62625306
openSNPrs62625306
23andMers62625306
23andMe allrs62625306
SNP Nexus

SNPshotrs62625306
SNPdbers62625306
MSV3drs62625306
GWAS Ctlgrs62625306
Max Magnitude7

rs62625306, also known as E797X, c.2389G>T, 2508G>T, and p.Glu797Ter, is a SNP in the BRCA1 gene. The rare variant allele is considered pathogenic for breast cancer by multiple sources in ClinVar.

See also OMIM 113705.0023

ClinVar
Risk rs62625306(A,T;A,T)
Alt rs62625306(A,T;A,T)
Reference rs62625306(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245159C>A; NC_000017.10:g.41245159C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019252.9, RCV000047819.4, RCV000162856.1, RCV000212169.1, RCV000077103.2,