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rs80357321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80357321(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094748
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357321
ebirs80357321
HLIrs80357321
Exacrs80357321
Varsomers80357321
Maprs80357321
PheGenIrs80357321
hapmaprs80357321
1000 genomesrs80357321
hgdprs80357321
ensemblrs80357321
gopubmedrs80357321
geneviewrs80357321
scholarrs80357321
googlers80357321
pharmgkbrs80357321
gwascentralrs80357321
openSNPrs80357321
23andMers80357321
23andMe allrs80357321
SNP Nexus

SNPshotrs80357321
SNPdbers80357321
MSV3drs80357321
GWAS Ctlgrs80357321
Max Magnitude6
rs80357321, also known as Y261X, c.783T>G and p.Tyr261Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357321(G;G)
Alt rs80357321(G;G)
Reference rs80357321(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41246765A>C
CLNSRC ClinVar
CLNACC RCV000031278.4, RCV000049129.4, RCV000212162.1,