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rs62625308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs62625308(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091924
GeneBRCA1
is asnp
is mentioned by
dbSNPrs62625308
ebirs62625308
HLIrs62625308
Exacrs62625308
Varsomers62625308
Maprs62625308
PheGenIrs62625308
hapmaprs62625308
1000 genomesrs62625308
hgdprs62625308
ensemblrs62625308
gopubmedrs62625308
geneviewrs62625308
scholarrs62625308
googlers62625308
pharmgkbrs62625308
gwascentralrs62625308
openSNPrs62625308
23andMers62625308
23andMe allrs62625308
SNP Nexus

SNPshotrs62625308
SNPdbers62625308
MSV3drs62625308
GWAS Ctlgrs62625308
Max Magnitude6
rs62625308, also known as R1203X, c.3607C>T and p.Arg1203Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
OMIM113705
Desc
Variant0012
Relatedalso
ClinVar
Risk rs62625308(G,T;G,T)
Alt rs62625308(G,T;G,T)
Reference rs62625308(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast cancer not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast cancer not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243941G>A; NC_000017.10:g.41243941G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019240.10, RCV000048251.7, RCV000131818.2, RCV000148389.1, RCV000159978.2, RCV000239343.1, RCV000048250.2, RCV000112133.1,