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rs80357673

From SNPedia

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


Make rs80357673(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067642
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357673
ebirs80357673
HLIrs80357673
Exacrs80357673
Varsomers80357673
Maprs80357673
PheGenIrs80357673
hapmaprs80357673
1000 genomesrs80357673
hgdprs80357673
ensemblrs80357673
gopubmedrs80357673
geneviewrs80357673
scholarrs80357673
googlers80357673
pharmgkbrs80357673
gwascentralrs80357673
openSNPrs80357673
23andMers80357673
23andMe allrs80357673
SNP Nexus

SNPshotrs80357673
SNPdbers80357673
MSV3drs80357673
GWAS Ctlgrs80357673
Max Magnitude6
rs80357673, also known as 5159delT, c.5040_5040delT and p.Ile1680=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357673(;)
Alt rs80357673(;)
Reference rs80357673(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41219659delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048745.2, RCV000112470.1,