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rs80359465

From SNPedia

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


Make rs80359465(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339152
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359465
ebirs80359465
HLIrs80359465
Exacrs80359465
Varsomers80359465
Maprs80359465
PheGenIrs80359465
hapmaprs80359465
1000 genomesrs80359465
hgdprs80359465
ensemblrs80359465
gopubmedrs80359465
geneviewrs80359465
scholarrs80359465
googlers80359465
pharmgkbrs80359465
gwascentralrs80359465
openSNPrs80359465
23andMers80359465
23andMe allrs80359465
SNP Nexus

SNPshotrs80359465
SNPdbers80359465
MSV3drs80359465
GWAS Ctlgrs80359465
Max Magnitude6
rs80359465, also known as 5025delT, c.4797_4797delT and p.Asn1599Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359465(;)
Alt rs80359465(;)
Reference rs80359465(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.32913289delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044493.2, RCV000113342.1,