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rs80357832

From SNPedia

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


Make rs80357832(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092722
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357832
ebirs80357832
HLIrs80357832
Exacrs80357832
Varsomers80357832
Maprs80357832
PheGenIrs80357832
hapmaprs80357832
1000 genomesrs80357832
hgdprs80357832
ensemblrs80357832
gopubmedrs80357832
geneviewrs80357832
scholarrs80357832
googlers80357832
pharmgkbrs80357832
gwascentralrs80357832
openSNPrs80357832
23andMers80357832
23andMe allrs80357832
SNP Nexus

SNPshotrs80357832
SNPdbers80357832
MSV3drs80357832
GWAS Ctlgrs80357832
Max Magnitude6
rs80357832, also known as 2925del4, c.2806_2809delGATA and p.Asp936_Lys937?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357832(;)
Alt rs80357832(;)
Reference rs80357832(GATA;GATA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244739_41244742delTATC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031072.4, RCV000047975.3, RCV000131908.2,