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rs80357260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357260(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090946
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357260
ebirs80357260
HLIrs80357260
Exacrs80357260
Varsomers80357260
Maprs80357260
PheGenIrs80357260
hapmaprs80357260
1000 genomesrs80357260
hgdprs80357260
ensemblrs80357260
gopubmedrs80357260
geneviewrs80357260
scholarrs80357260
googlers80357260
pharmgkbrs80357260
gwascentralrs80357260
openSNPrs80357260
23andMers80357260
23andMe allrs80357260
SNP Nexus

SNPshotrs80357260
SNPdbers80357260
MSV3drs80357260
GWAS Ctlgrs80357260
Max Magnitude6
rs80357260, also known as Q1395X, c.4183C>T and p.Gln1395Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357260(T;T)
Alt rs80357260(T;T)
Reference rs80357260(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41242963G>A
CLNSRC ClinVar
CLNACC RCV000048471.4, RCV000077564.7, RCV000162874.1, RCV000212181.1,