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rs397508988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397508988(G;T)
Make rs397508988(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092890
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508988
ebirs397508988
HLIrs397508988
Exacrs397508988
Varsomers397508988
Maprs397508988
PheGenIrs397508988
hapmaprs397508988
1000 genomesrs397508988
hgdprs397508988
ensemblrs397508988
gopubmedrs397508988
geneviewrs397508988
scholarrs397508988
googlers397508988
pharmgkbrs397508988
gwascentralrs397508988
openSNPrs397508988
23andMers397508988
23andMe allrs397508988
SNP Nexus

SNPshotrs397508988
SNPdbers397508988
MSV3drs397508988
GWAS Ctlgrs397508988
Max Magnitude0

c.2641G>T (p.Glu881Ter)

ClinVar clinical significance not provided

ClinVar
Risk rs397508988(A,T;A,T)
Alt rs397508988(A,T;A,T)
Reference rs397508988(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244907C>A
CLNSRC ClinVar
CLNACC RCV000047907.2, RCV000225552.1,