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rs80359345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359345(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319285
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359345
ClinGenrs80359345
ebirs80359345
HLIrs80359345
Exacrs80359345
Varsomers80359345
Maprs80359345
PheGenIrs80359345
hapmaprs80359345
1000 genomesrs80359345
hgdprs80359345
ensemblrs80359345
gopubmedrs80359345
geneviewrs80359345
scholarrs80359345
googlers80359345
pharmgkbrs80359345
gwascentralrs80359345
openSNPrs80359345
23andMers80359345
23andMe allrs80359345
SNP Nexus

SNPshotrs80359345
SNPdbers80359345
MSV3drs80359345
GWAS Ctlgrs80359345
Max Magnitude6
rs80359345, also known as 504insA, c.276_277insA and p.Gln92_Ser93?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359345(A;A)
Alt rs80359345(A;A)
Reference Rs80359345(;)
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.32893422dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044051.2, RCV000113347.3,