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rs80357215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357215(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094465
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357215
ebirs80357215
HLIrs80357215
Exacrs80357215
Varsomers80357215
Maprs80357215
PheGenIrs80357215
hapmaprs80357215
1000 genomesrs80357215
hgdprs80357215
ensemblrs80357215
gopubmedrs80357215
geneviewrs80357215
scholarrs80357215
googlers80357215
pharmgkbrs80357215
gwascentralrs80357215
openSNPrs80357215
23andMers80357215
23andMe allrs80357215
SNP Nexus

SNPshotrs80357215
SNPdbers80357215
MSV3drs80357215
GWAS Ctlgrs80357215
Max Magnitude6
rs80357215, also known as Q356X, c.1066C>T and p.Gln356Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357215(T;T)
Alt rs80357215(T;T)
Reference rs80357215(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246482G>A
CLNSRC ClinVar
CLNACC RCV000047325.2, RCV000111538.1, RCV000162844.1,