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rs80359393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359393(-;-)
Make rs80359393(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316496
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359393
ebirs80359393
HLIrs80359393
Exacrs80359393
Varsomers80359393
Maprs80359393
PheGenIrs80359393
hapmaprs80359393
1000 genomesrs80359393
hgdprs80359393
ensemblrs80359393
gopubmedrs80359393
geneviewrs80359393
scholarrs80359393
googlers80359393
pharmgkbrs80359393
gwascentralrs80359393
openSNPrs80359393
23andMers80359393
23andMe allrs80359393
SNP Nexus

SNPshotrs80359393
SNPdbers80359393
MSV3drs80359393
GWAS Ctlgrs80359393
Max Magnitude6
rs80359393, also known as 264insT, c.36_37insT and p.Phe12_Glu13?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359393(T;T)
Alt rs80359393(T;T)
Reference rs80359393(;)
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.32890633dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044248.2, RCV000082917.3,