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rs80357834

From SNPedia

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


Make rs80357834(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093801
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357834
ebirs80357834
HLIrs80357834
Exacrs80357834
Varsomers80357834
Maprs80357834
PheGenIrs80357834
hapmaprs80357834
1000 genomesrs80357834
hgdprs80357834
ensemblrs80357834
gopubmedrs80357834
geneviewrs80357834
scholarrs80357834
googlers80357834
pharmgkbrs80357834
gwascentralrs80357834
openSNPrs80357834
23andMers80357834
23andMe allrs80357834
SNP Nexus

SNPshotrs80357834
SNPdbers80357834
MSV3drs80357834
GWAS Ctlgrs80357834
Max Magnitude6
rs80357834, also known as 1848delGA, c.1729_1730delGA and p.Glu577Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357834(;)
Alt rs80357834(;)
Reference rs80357834(GA;GA)
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.41245818_41245819delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047571.2, RCV000111670.1,