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rs80357055

From SNPedia

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


Make rs80357055(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049140
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357055
ebirs80357055
HLIrs80357055
Exacrs80357055
Varsomers80357055
Maprs80357055
PheGenIrs80357055
hapmaprs80357055
1000 genomesrs80357055
hgdprs80357055
ensemblrs80357055
gopubmedrs80357055
geneviewrs80357055
scholarrs80357055
googlers80357055
pharmgkbrs80357055
gwascentralrs80357055
openSNPrs80357055
23andMers80357055
23andMe allrs80357055
SNP Nexus

SNPshotrs80357055
SNPdbers80357055
MSV3drs80357055
GWAS Ctlgrs80357055
Max Magnitude6
rs80357055, also known as S1796X, c.5387C>A and p.Ser1796Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357055(A;A)
Alt rs80357055(A;A)
Reference rs80357055(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41201157G>T
CLNSRC ClinVar
CLNACC RCV000031244.4, RCV000048970.3, RCV000162886.1,