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rs80359383

From SNPedia

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


Make rs80359383(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337649
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359383
ebirs80359383
HLIrs80359383
Exacrs80359383
Varsomers80359383
Maprs80359383
PheGenIrs80359383
hapmaprs80359383
1000 genomesrs80359383
hgdprs80359383
ensemblrs80359383
gopubmedrs80359383
geneviewrs80359383
scholarrs80359383
googlers80359383
pharmgkbrs80359383
gwascentralrs80359383
openSNPrs80359383
23andMers80359383
23andMe allrs80359383
SNP Nexus

SNPshotrs80359383
SNPdbers80359383
MSV3drs80359383
GWAS Ctlgrs80359383
Max Magnitude6
rs80359383, also known as 3522delT, c.3294_3294delT and p.Asn1098=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359383(;)
Alt rs80359383(;)
Reference rs80359383(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.32911786delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044171.2, RCV000113159.1,