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rs80357234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357234(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104949
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357234
dbSNP (old)rs80357234
ClinGenrs80357234
ebirs80357234
HLIrs80357234
Exacrs80357234
Gnomadrs80357234
Varsomers80357234
Maprs80357234
PheGenIrs80357234
Biobankrs80357234
1000 genomesrs80357234
hgdprs80357234
ensemblrs80357234
gopubmedrs80357234
geneviewrs80357234
scholarrs80357234
googlers80357234
pharmgkbrs80357234
gwascentralrs80357234
openSNPrs80357234
23andMers80357234
23andMe allrs80357234
SNP Nexus

SNPshotrs80357234
SNPdbers80357234
MSV3drs80357234
GWAS Ctlgrs80357234
Max Magnitude6
rs80357234, also known as Q74X, c.220C>T and p.Gln74Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357234(T;T)
Alt rs80357234(T;T)
Reference Rs80357234(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41256966G>A
CLNSRC ClinVar
CLNACC RCV000047758.3, RCV000112044.3, RCV000414657.1,