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rs80357959

From SNPedia

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


Make rs80357959(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43051091
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357959
ebirs80357959
HLIrs80357959
Exacrs80357959
Varsomers80357959
Maprs80357959
PheGenIrs80357959
hapmaprs80357959
1000 genomesrs80357959
hgdprs80357959
ensemblrs80357959
gopubmedrs80357959
geneviewrs80357959
scholarrs80357959
googlers80357959
pharmgkbrs80357959
gwascentralrs80357959
openSNPrs80357959
23andMers80357959
23andMe allrs80357959
SNP Nexus

SNPshotrs80357959
SNPdbers80357959
MSV3drs80357959
GWAS Ctlgrs80357959
Max Magnitude6
rs80357959, also known as 5423delC, c.5304_5304delC and p.Cys1768=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357959(;)
Alt rs80357959(;)
Reference rs80357959(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41203108delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112605.1,