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rs80359339

From SNPedia

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


Make rs80359339(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319272
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359339
ebirs80359339
HLIrs80359339
Exacrs80359339
Varsomers80359339
Maprs80359339
PheGenIrs80359339
hapmaprs80359339
1000 genomesrs80359339
hgdprs80359339
ensemblrs80359339
gopubmedrs80359339
geneviewrs80359339
scholarrs80359339
googlers80359339
pharmgkbrs80359339
gwascentralrs80359339
openSNPrs80359339
23andMers80359339
23andMe allrs80359339
SNP Nexus

SNPshotrs80359339
SNPdbers80359339
MSV3drs80359339
GWAS Ctlgrs80359339
Max Magnitude6
rs80359339, also known as 491delT, c.263_263delT and p.Leu88Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359339(;)
Alt rs80359339(;)
Reference rs80359339(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.32893409delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044032.2, RCV000113333.1,