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rs80359599

From SNPedia

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


Make rs80359599(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340845
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359599
ebirs80359599
HLIrs80359599
Exacrs80359599
Varsomers80359599
Maprs80359599
PheGenIrs80359599
hapmaprs80359599
1000 genomesrs80359599
hgdprs80359599
ensemblrs80359599
gopubmedrs80359599
geneviewrs80359599
scholarrs80359599
googlers80359599
pharmgkbrs80359599
gwascentralrs80359599
openSNPrs80359599
23andMers80359599
23andMe allrs80359599
SNP Nexus

SNPshotrs80359599
SNPdbers80359599
MSV3drs80359599
GWAS Ctlgrs80359599
Max Magnitude6
rs80359599, also known as 6718delC, c.6490_6490delC and p.Gln2164Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359599(;)
Alt rs80359599(;)
Reference rs80359599(C;C)
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.32914982delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044970.2, RCV000113599.1,