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rs80359514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359514(-;-)
Make rs80359514(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339821
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359514
ebirs80359514
HLIrs80359514
Exacrs80359514
Varsomers80359514
Maprs80359514
PheGenIrs80359514
hapmaprs80359514
1000 genomesrs80359514
hgdprs80359514
ensemblrs80359514
gopubmedrs80359514
geneviewrs80359514
scholarrs80359514
googlers80359514
pharmgkbrs80359514
gwascentralrs80359514
openSNPrs80359514
23andMers80359514
23andMe allrs80359514
SNP Nexus

SNPshotrs80359514
SNPdbers80359514
MSV3drs80359514
GWAS Ctlgrs80359514
Max Magnitude6
rs80359514, also known as 5694insT, c.5466_5467insT and p.Asn1822_Lys1823?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359514(T;T)
Alt rs80359514(T;T)
Reference rs80359514(;)
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.32913958dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044664.2, RCV000113433.1,