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rs80357239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80357239(G;T)
Make rs80357239(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063372
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357239
ebirs80357239
HLIrs80357239
Exacrs80357239
Varsomers80357239
Maprs80357239
PheGenIrs80357239
hapmaprs80357239
1000 genomesrs80357239
hgdprs80357239
ensemblrs80357239
gopubmedrs80357239
geneviewrs80357239
scholarrs80357239
googlers80357239
pharmgkbrs80357239
gwascentralrs80357239
openSNPrs80357239
23andMers80357239
23andMe allrs80357239
SNP Nexus

SNPshotrs80357239
SNPdbers80357239
MSV3drs80357239
GWAS Ctlgrs80357239
Max Magnitude6
rs80357239, also known as W1718X, c.5154G>A and p.Trp1718Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357239(A,T;A,T)
Alt rs80357239(A,T;A,T)
Reference rs80357239(G;G)
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.41215389C>A; NC_000017.10:g.41215389C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048833.2, RCV000112539.1, RCV000129752.2, RCV000048832.4, RCV000077604.3, RCV000212195.1,