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rs80357808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal


Make rs80357808(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092089
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357808
ebirs80357808
HLIrs80357808
Exacrs80357808
Varsomers80357808
Maprs80357808
PheGenIrs80357808
hapmaprs80357808
1000 genomesrs80357808
hgdprs80357808
ensemblrs80357808
gopubmedrs80357808
geneviewrs80357808
scholarrs80357808
googlers80357808
pharmgkbrs80357808
gwascentralrs80357808
openSNPrs80357808
23andMers80357808
23andMe allrs80357808
SNP Nexus

SNPshotrs80357808
SNPdbers80357808
MSV3drs80357808
GWAS Ctlgrs80357808
Max Magnitude6
rs80357808, also known as 3561delG, c.3442_3442delG and p.Glu1148Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357808(;)
Alt rs80357808(;)
Reference rs80357808(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244106delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031111.4, RCV000048199.2, RCV000130808.2,