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rs80359633

From SNPedia

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


Make rs80359633(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330937
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359633
ebirs80359633
HLIrs80359633
Exacrs80359633
Varsomers80359633
Maprs80359633
PheGenIrs80359633
hapmaprs80359633
1000 genomesrs80359633
hgdprs80359633
ensemblrs80359633
gopubmedrs80359633
geneviewrs80359633
scholarrs80359633
googlers80359633
pharmgkbrs80359633
gwascentralrs80359633
openSNPrs80359633
23andMers80359633
23andMe allrs80359633
SNP Nexus

SNPshotrs80359633
SNPdbers80359633
MSV3drs80359633
GWAS Ctlgrs80359633
Max Magnitude6
rs80359633, also known as 928delT, c.700_700delT and p.Ser234Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359633(;)
Alt rs80359633(;)
Reference rs80359633(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32905074delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031661.5, RCV000045101.2,