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rs80357458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357458(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092699
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357458
ebirs80357458
HLIrs80357458
Exacrs80357458
Varsomers80357458
Maprs80357458
PheGenIrs80357458
hapmaprs80357458
1000 genomesrs80357458
hgdprs80357458
ensemblrs80357458
gopubmedrs80357458
geneviewrs80357458
scholarrs80357458
googlers80357458
pharmgkbrs80357458
gwascentralrs80357458
openSNPrs80357458
23andMers80357458
23andMe allrs80357458
SNP Nexus

SNPshotrs80357458
SNPdbers80357458
MSV3drs80357458
GWAS Ctlgrs80357458
Max Magnitude6
rs80357458, also known as C944X, c.2832T>A and p.Cys944Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357458(A;A)
Alt rs80357458(A;A)
Reference rs80357458(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244716A>T
CLNSRC ClinVar
CLNACC RCV000047982.2, RCV000111946.1,