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rs80357005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357005(A;A)
Make rs80357005(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093619
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357005
ebirs80357005
HLIrs80357005
Exacrs80357005
Varsomers80357005
Maprs80357005
PheGenIrs80357005
hapmaprs80357005
1000 genomesrs80357005
hgdprs80357005
ensemblrs80357005
gopubmedrs80357005
geneviewrs80357005
scholarrs80357005
googlers80357005
pharmgkbrs80357005
gwascentralrs80357005
openSNPrs80357005
23andMers80357005
23andMe allrs80357005
SNP Nexus

SNPshotrs80357005
SNPdbers80357005
MSV3drs80357005
GWAS Ctlgrs80357005
Max Magnitude6
rs80357005, also known as E638X, c.1912G>T and p.Glu638Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357005(A,T;A,T)
Alt rs80357005(A,T;A,T)
Reference rs80357005(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.41245636C>A; NC_000017.10:g.41245636C>T
CLNSRC ClinVar
CLNACC RCV000047638.2, RCV000111732.1, RCV000031014.5, RCV000047637.2,