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rs273898674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273898674(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093472
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273898674
ebirs273898674
HLIrs273898674
Exacrs273898674
Varsomers273898674
Maprs273898674
PheGenIrs273898674
hapmaprs273898674
1000 genomesrs273898674
hgdprs273898674
ensemblrs273898674
gopubmedrs273898674
geneviewrs273898674
scholarrs273898674
googlers273898674
pharmgkbrs273898674
gwascentralrs273898674
openSNPrs273898674
23andMers273898674
23andMe allrs273898674
SNP Nexus

SNPshotrs273898674
SNPdbers273898674
MSV3drs273898674
GWAS Ctlgrs273898674
Max Magnitude6
rs273898674, also known as Q687X, c.2059C>T and p.Gln687Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273898674(T;T)
Alt rs273898674(T;T)
Reference rs273898674(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245489G>A
CLNSRC ClinVar
CLNACC RCV000047695.2, RCV000111755.1, RCV000216253.1,