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rs80359553

From SNPedia

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


Make rs80359553(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340356
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359553
ebirs80359553
HLIrs80359553
Exacrs80359553
Varsomers80359553
Maprs80359553
PheGenIrs80359553
hapmaprs80359553
1000 genomesrs80359553
hgdprs80359553
ensemblrs80359553
gopubmedrs80359553
geneviewrs80359553
scholarrs80359553
googlers80359553
pharmgkbrs80359553
gwascentralrs80359553
openSNPrs80359553
23andMers80359553
23andMe allrs80359553
SNP Nexus

SNPshotrs80359553
SNPdbers80359553
MSV3drs80359553
GWAS Ctlgrs80359553
Max Magnitude6
rs80359553, also known as 6229delT, c.6001_6001delT and p.Ser2001Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359553(;)
Alt rs80359553(;)
Reference rs80359553(T;T)
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.32914493delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044817.2, RCV000113518.1,