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rs80357136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357136(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092128
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357136
ebirs80357136
HLIrs80357136
Exacrs80357136
Varsomers80357136
Maprs80357136
PheGenIrs80357136
hapmaprs80357136
1000 genomesrs80357136
hgdprs80357136
ensemblrs80357136
gopubmedrs80357136
geneviewrs80357136
scholarrs80357136
googlers80357136
pharmgkbrs80357136
gwascentralrs80357136
openSNPrs80357136
23andMers80357136
23andMe allrs80357136
SNP Nexus

SNPshotrs80357136
SNPdbers80357136
MSV3drs80357136
GWAS Ctlgrs80357136
Max Magnitude6
rs80357136, also known as Q1135X, c.3403C>T and p.Gln1135Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357136(G,T;G,T)
Alt rs80357136(G,T;G,T)
Reference rs80357136(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244145G>A; NC_000017.10:g.41244145G>C
CLNSRC ClinVar
CLNACC RCV000048179.2, RCV000077547.4, RCV000236027.1, RCV000226768.1,