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rs80356907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356907(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093586
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356907
ebirs80356907
HLIrs80356907
Exacrs80356907
Varsomers80356907
Maprs80356907
PheGenIrs80356907
hapmaprs80356907
1000 genomesrs80356907
hgdprs80356907
ensemblrs80356907
gopubmedrs80356907
geneviewrs80356907
scholarrs80356907
googlers80356907
pharmgkbrs80356907
gwascentralrs80356907
openSNPrs80356907
23andMers80356907
23andMe allrs80356907
SNP Nexus

SNPshotrs80356907
SNPdbers80356907
MSV3drs80356907
GWAS Ctlgrs80356907
Max Magnitude6
rs80356907, also known as E649X, c.1945G>T and p.Glu649Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356907(C,T;C,T)
Alt rs80356907(C,T;C,T)
Reference rs80356907(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.41245603C>A; NC_000017.10:g.41245603C>G
CLNSRC ClinVar
CLNACC RCV000047649.2, RCV000111737.1, RCV000047648.2, RCV000111736.1,