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rs80359757

From SNPedia

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


Make rs80359757(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394792
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359757
ebirs80359757
HLIrs80359757
Exacrs80359757
Varsomers80359757
Maprs80359757
PheGenIrs80359757
hapmaprs80359757
1000 genomesrs80359757
hgdprs80359757
ensemblrs80359757
gopubmedrs80359757
geneviewrs80359757
scholarrs80359757
googlers80359757
pharmgkbrs80359757
gwascentralrs80359757
openSNPrs80359757
23andMers80359757
23andMe allrs80359757
SNP Nexus

SNPshotrs80359757
SNPdbers80359757
MSV3drs80359757
GWAS Ctlgrs80359757
Max Magnitude6
rs80359757, also known as 9588delT, c.9360_9360delT and p.Ile3120Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359757(;)
Alt rs80359757(;)
Reference rs80359757(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.32968929delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045800.2, RCV000114095.1,