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rs80356915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356915(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094198
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356915
ebirs80356915
HLIrs80356915
Exacrs80356915
Varsomers80356915
Maprs80356915
PheGenIrs80356915
hapmaprs80356915
1000 genomesrs80356915
hgdprs80356915
ensemblrs80356915
gopubmedrs80356915
geneviewrs80356915
scholarrs80356915
googlers80356915
pharmgkbrs80356915
gwascentralrs80356915
openSNPrs80356915
23andMers80356915
23andMe allrs80356915
SNP Nexus

SNPshotrs80356915
SNPdbers80356915
MSV3drs80356915
GWAS Ctlgrs80356915
Max Magnitude6
rs80356915, also known as E445X, c.1333G>T and p.Glu445Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356915(C,T;C,T)
Alt rs80356915(C,T;C,T)
Reference rs80356915(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246215C>A; NC_000017.10:g.41246215C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000047422.2, RCV000111590.1, RCV000047421.2, RCV000111589.1, RCV000129529.2,