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rs80357259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357259(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091012
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357259
ebirs80357259
HLIrs80357259
Exacrs80357259
Varsomers80357259
Maprs80357259
PheGenIrs80357259
hapmaprs80357259
1000 genomesrs80357259
hgdprs80357259
ensemblrs80357259
gopubmedrs80357259
geneviewrs80357259
scholarrs80357259
googlers80357259
pharmgkbrs80357259
gwascentralrs80357259
openSNPrs80357259
23andMers80357259
23andMe allrs80357259
SNP Nexus

SNPshotrs80357259
SNPdbers80357259
MSV3drs80357259
GWAS Ctlgrs80357259
Max Magnitude6
rs80357259, also known as E1373X, c.4117G>T and p.Glu1373Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357259(T;T)
Alt rs80357259(T;T)
Reference rs80357259(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243029C>A
CLNSRC ClinVar
CLNACC RCV000031150.5, RCV000048449.2, RCV000074589.6, RCV000162872.1,