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rs80359656

From SNPedia

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


Make rs80359656(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356517
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359656
ebirs80359656
HLIrs80359656
Exacrs80359656
Varsomers80359656
Maprs80359656
PheGenIrs80359656
hapmaprs80359656
1000 genomesrs80359656
hgdprs80359656
ensemblrs80359656
gopubmedrs80359656
geneviewrs80359656
scholarrs80359656
googlers80359656
pharmgkbrs80359656
gwascentralrs80359656
openSNPrs80359656
23andMers80359656
23andMe allrs80359656
SNP Nexus

SNPshotrs80359656
SNPdbers80359656
MSV3drs80359656
GWAS Ctlgrs80359656
Max Magnitude6
rs80359656, also known as 7753insA, c.7525_7526insA and p.Ser2509?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359656(AA,AT;AA,AT)
Alt rs80359656(AA,AT;AA,AT)
Reference rs80359656(A;A)
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.32930654_32930655insT; NC_000013.10:g.32930654dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045237.2, RCV000076998.3,