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rs80357123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357123(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057078
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357123
ebirs80357123
HLIrs80357123
Exacrs80357123
Varsomers80357123
Maprs80357123
PheGenIrs80357123
hapmaprs80357123
1000 genomesrs80357123
hgdprs80357123
ensemblrs80357123
gopubmedrs80357123
geneviewrs80357123
scholarrs80357123
googlers80357123
pharmgkbrs80357123
gwascentralrs80357123
openSNPrs80357123
23andMers80357123
23andMe allrs80357123
SNP Nexus

SNPshotrs80357123
SNPdbers80357123
MSV3drs80357123
GWAS Ctlgrs80357123
Max Magnitude6
rs80357123, also known as R1751X, c.5251C>T and p.Arg1751Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357123(T;T)
Alt rs80357123(T;T)
Reference rs80357123(C;C)
Significance Other
Disease Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41209095G>A
CLNSRC ClinVar
CLNACC RCV000048882.4, RCV000074600.6, RCV000077611.6, RCV000162884.1,