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rs80357067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357067(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082422
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357067
ebirs80357067
HLIrs80357067
Exacrs80357067
Varsomers80357067
Maprs80357067
PheGenIrs80357067
hapmaprs80357067
1000 genomesrs80357067
hgdprs80357067
ensemblrs80357067
gopubmedrs80357067
geneviewrs80357067
scholarrs80357067
googlers80357067
pharmgkbrs80357067
gwascentralrs80357067
openSNPrs80357067
23andMers80357067
23andMe allrs80357067
SNP Nexus

SNPshotrs80357067
SNPdbers80357067
MSV3drs80357067
GWAS Ctlgrs80357067
Max Magnitude6
rs80357067, also known as Q1447X, c.4339C>T and p.Gln1447Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357067(A,T;A,T)
Alt rs80357067(A,T;A,T)
Reference rs80357067(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41234439G>A; NC_000017.10:g.41234439G>T
CLNSRC ClinVar
CLNACC RCV000048528.2, RCV000077570.3, RCV000159990.1,