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rs80357934

From SNPedia

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


Make rs80357934(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43047692
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357934
ebirs80357934
HLIrs80357934
Exacrs80357934
Varsomers80357934
Maprs80357934
PheGenIrs80357934
hapmaprs80357934
1000 genomesrs80357934
hgdprs80357934
ensemblrs80357934
gopubmedrs80357934
geneviewrs80357934
scholarrs80357934
googlers80357934
pharmgkbrs80357934
gwascentralrs80357934
openSNPrs80357934
23andMers80357934
23andMe allrs80357934
SNP Nexus

SNPshotrs80357934
SNPdbers80357934
MSV3drs80357934
GWAS Ctlgrs80357934
Max Magnitude6
rs80357934, also known as 5537delA, c.5418_5418delA and p.Pro1806=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357934(;)
Alt rs80357934(;)
Reference rs80357934(A;A)
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.41199708delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048986.2, RCV000112649.1,