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rs80357564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357564(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091821
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357564
ebirs80357564
HLIrs80357564
Exacrs80357564
Varsomers80357564
Maprs80357564
PheGenIrs80357564
hapmaprs80357564
1000 genomesrs80357564
hgdprs80357564
ensemblrs80357564
gopubmedrs80357564
geneviewrs80357564
scholarrs80357564
googlers80357564
pharmgkbrs80357564
gwascentralrs80357564
openSNPrs80357564
23andMers80357564
23andMe allrs80357564
SNP Nexus

SNPshotrs80357564
SNPdbers80357564
MSV3drs80357564
GWAS Ctlgrs80357564
Max Magnitude6
rs80357564, also known as 3829delT, c.3710_3710delT and p.Ile1237Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357564(;)
Alt rs80357564(;)
Reference rs80357564(T;T)
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.41243838delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048294.2, RCV000112160.1, RCV000130545.2,