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rs80357038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357038(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091636
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357038
ebirs80357038
HLIrs80357038
Exacrs80357038
Varsomers80357038
Maprs80357038
PheGenIrs80357038
hapmaprs80357038
1000 genomesrs80357038
hgdprs80357038
ensemblrs80357038
gopubmedrs80357038
geneviewrs80357038
scholarrs80357038
googlers80357038
pharmgkbrs80357038
gwascentralrs80357038
openSNPrs80357038
23andMers80357038
23andMe allrs80357038
SNP Nexus

SNPshotrs80357038
SNPdbers80357038
MSV3drs80357038
GWAS Ctlgrs80357038
Max Magnitude6
rs80357038, also known as Q1299X, c.3895C>T and p.Gln1299Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357038(T;T)
Alt rs80357038(T;T)
Reference rs80357038(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.41243653G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048370.2, RCV000112209.1, RCV000131813.2,