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rs80357131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357131(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092968
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357131
ebirs80357131
HLIrs80357131
Exacrs80357131
Varsomers80357131
Maprs80357131
PheGenIrs80357131
hapmaprs80357131
1000 genomesrs80357131
hgdprs80357131
ensemblrs80357131
gopubmedrs80357131
geneviewrs80357131
scholarrs80357131
googlers80357131
pharmgkbrs80357131
gwascentralrs80357131
openSNPrs80357131
23andMers80357131
23andMe allrs80357131
SNP Nexus

SNPshotrs80357131
SNPdbers80357131
MSV3drs80357131
GWAS Ctlgrs80357131
Max Magnitude6
rs80357131, also known as Q855X, c.2563C>T and p.Gln855Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357131(T;T)
Alt rs80357131(T;T)
Reference rs80357131(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244985G>A
CLNSRC ClinVar
CLNACC RCV000031056.5, RCV000047880.2, RCV000223464.1,