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rs80357347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357347(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063347
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357347
ebirs80357347
HLIrs80357347
Exacrs80357347
Varsomers80357347
Maprs80357347
PheGenIrs80357347
hapmaprs80357347
1000 genomesrs80357347
hgdprs80357347
ensemblrs80357347
gopubmedrs80357347
geneviewrs80357347
scholarrs80357347
googlers80357347
pharmgkbrs80357347
gwascentralrs80357347
openSNPrs80357347
23andMers80357347
23andMe allrs80357347
SNP Nexus

SNPshotrs80357347
SNPdbers80357347
MSV3drs80357347
GWAS Ctlgrs80357347
Max Magnitude6
rs80357347, also known as K1727X, c.5179A>T and p.Lys1727Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357347(T;T)
Alt rs80357347(T;T)
Reference rs80357347(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41215364T>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031226.6, RCV000048844.3, RCV000131827.2, RCV000237069.1,