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rs80357765

From SNPedia

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


Make rs80357765(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082551
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357765
ebirs80357765
HLIrs80357765
Exacrs80357765
Varsomers80357765
Maprs80357765
PheGenIrs80357765
hapmaprs80357765
1000 genomesrs80357765
hgdprs80357765
ensemblrs80357765
gopubmedrs80357765
geneviewrs80357765
scholarrs80357765
googlers80357765
pharmgkbrs80357765
gwascentralrs80357765
openSNPrs80357765
23andMers80357765
23andMe allrs80357765
SNP Nexus

SNPshotrs80357765
SNPdbers80357765
MSV3drs80357765
GWAS Ctlgrs80357765
Max Magnitude6
rs80357765, also known as 4329delC, c.4210_4210delC and p.Leu1404Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357765(;)
Alt rs80357765(;)
Reference rs80357765(C;C)
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.41234568delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048488.2, RCV000112296.1,