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rs80359518

From SNPedia

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


Make rs80359518(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339881
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359518
ebirs80359518
HLIrs80359518
Exacrs80359518
Varsomers80359518
Maprs80359518
PheGenIrs80359518
hapmaprs80359518
1000 genomesrs80359518
hgdprs80359518
ensemblrs80359518
gopubmedrs80359518
geneviewrs80359518
scholarrs80359518
googlers80359518
pharmgkbrs80359518
gwascentralrs80359518
openSNPrs80359518
23andMers80359518
23andMe allrs80359518
SNP Nexus

SNPshotrs80359518
SNPdbers80359518
MSV3drs80359518
GWAS Ctlgrs80359518
Max Magnitude6
rs80359518, also known as 5754delT, c.5526_5526delT and p.Pro1842=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359518(;)
Alt rs80359518(;)
Reference rs80359518(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.32914018delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044677.2, RCV000113443.1,