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rs80357432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357432(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057069
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357432
ebirs80357432
HLIrs80357432
Exacrs80357432
Varsomers80357432
Maprs80357432
PheGenIrs80357432
hapmaprs80357432
1000 genomesrs80357432
hgdprs80357432
ensemblrs80357432
gopubmedrs80357432
geneviewrs80357432
scholarrs80357432
googlers80357432
pharmgkbrs80357432
gwascentralrs80357432
openSNPrs80357432
23andMers80357432
23andMe allrs80357432
SNP Nexus

SNPshotrs80357432
SNPdbers80357432
MSV3drs80357432
GWAS Ctlgrs80357432
Max Magnitude6
rs80357432, also known as E1754X, c.5260G>T and p.Glu1754Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357432(A,C,T;A,C,T)
Alt rs80357432(A,C,T;A,C,T)
Reference rs80357432(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41209086C>A; NC_000017.10:g.41209086C>T
CLNSRC ClinVar
CLNACC RCV000048891.3, RCV000112584.1, RCV000168521.1,