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rs80359608

From SNPedia

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


Make rs80359608(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340958
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359608
ebirs80359608
HLIrs80359608
Exacrs80359608
Varsomers80359608
Maprs80359608
PheGenIrs80359608
hapmaprs80359608
1000 genomesrs80359608
hgdprs80359608
ensemblrs80359608
gopubmedrs80359608
geneviewrs80359608
scholarrs80359608
googlers80359608
pharmgkbrs80359608
gwascentralrs80359608
openSNPrs80359608
23andMers80359608
23andMe allrs80359608
SNP Nexus

SNPshotrs80359608
SNPdbers80359608
MSV3drs80359608
GWAS Ctlgrs80359608
Max Magnitude6
rs80359608, also known as 6831delTG, c.6603_6604delTG and p.Ser2201_Asp2202SerCysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359608(;)
Alt rs80359608(;)
Reference rs80359608(TG;TG)
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.32915095_32915096delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044992.2, RCV000113612.1,