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rs80357010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357010(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094051
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357010
ebirs80357010
HLIrs80357010
Exacrs80357010
Varsomers80357010
Maprs80357010
PheGenIrs80357010
hapmaprs80357010
1000 genomesrs80357010
hgdprs80357010
ensemblrs80357010
gopubmedrs80357010
geneviewrs80357010
scholarrs80357010
googlers80357010
pharmgkbrs80357010
gwascentralrs80357010
openSNPrs80357010
23andMers80357010
23andMe allrs80357010
SNP Nexus

SNPshotrs80357010
SNPdbers80357010
MSV3drs80357010
GWAS Ctlgrs80357010
Max Magnitude6
rs80357010, also known as Q494X, c.1480C>T and p.Gln494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357010(T;T)
Alt rs80357010(T;T)
Reference rs80357010(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.41246068G>A
CLNSRC ClinVar
CLNACC RCV000030996.5, RCV000047490.2, RCV000223308.1,