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rs80357251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357251(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092896
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357251
ebirs80357251
HLIrs80357251
Exacrs80357251
Varsomers80357251
Maprs80357251
PheGenIrs80357251
hapmaprs80357251
1000 genomesrs80357251
hgdprs80357251
ensemblrs80357251
gopubmedrs80357251
geneviewrs80357251
scholarrs80357251
googlers80357251
pharmgkbrs80357251
gwascentralrs80357251
openSNPrs80357251
23andMers80357251
23andMe allrs80357251
SNP Nexus

SNPshotrs80357251
SNPdbers80357251
MSV3drs80357251
GWAS Ctlgrs80357251
Max Magnitude6
rs80357251, also known as E879X, c.2635G>T and p.Glu879X, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357251(A,T;A,T)
Alt rs80357251(A,T;A,T)
Reference rs80357251(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244913C>A; NC_000017.10:g.41244913C>T
CLNSRC ClinVar
CLNACC RCV000031059.4, RCV000047906.3, RCV000235968.1, RCV000047905.2, RCV000111907.1,