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rs80359552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GA) 6 BRCA2 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar


Make rs80359552(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340323
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359552
ebirs80359552
HLIrs80359552
Exacrs80359552
Varsomers80359552
Maprs80359552
PheGenIrs80359552
hapmaprs80359552
1000 genomesrs80359552
hgdprs80359552
ensemblrs80359552
gopubmedrs80359552
geneviewrs80359552
scholarrs80359552
googlers80359552
pharmgkbrs80359552
gwascentralrs80359552
openSNPrs80359552
23andMers80359552
23andMe allrs80359552
SNP Nexus

SNPshotrs80359552
SNPdbers80359552
MSV3drs80359552
GWAS Ctlgrs80359552
Max Magnitude6
rs80359552, also known as 6196delGA, c.5968_5969delGA and p.Asp1990Cysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359552(;)
Alt rs80359552(;)
Reference rs80359552(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914460_32914461delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044807.2, RCV000113512.1,