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rs80359722

From SNPedia

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


Make rs80359722(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319095
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359722
ebirs80359722
HLIrs80359722
Exacrs80359722
Varsomers80359722
Maprs80359722
PheGenIrs80359722
hapmaprs80359722
1000 genomesrs80359722
hgdprs80359722
ensemblrs80359722
gopubmedrs80359722
geneviewrs80359722
scholarrs80359722
googlers80359722
pharmgkbrs80359722
gwascentralrs80359722
openSNPrs80359722
23andMers80359722
23andMe allrs80359722
SNP Nexus

SNPshotrs80359722
SNPdbers80359722
MSV3drs80359722
GWAS Ctlgrs80359722
Max Magnitude6
rs80359722, also known as 314delTT, c.86_87delTT and p.Leu29Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359722(;)
Alt rs80359722(;)
Reference rs80359722(TT;TT)
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.32893232_32893233delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045604.2, RCV000113114.1,