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rs80359595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359595(-;-)
Make rs80359595(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340805
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359595
ebirs80359595
HLIrs80359595
Exacrs80359595
Varsomers80359595
Maprs80359595
PheGenIrs80359595
hapmaprs80359595
1000 genomesrs80359595
hgdprs80359595
ensemblrs80359595
gopubmedrs80359595
geneviewrs80359595
scholarrs80359595
googlers80359595
pharmgkbrs80359595
gwascentralrs80359595
openSNPrs80359595
23andMers80359595
23andMe allrs80359595
SNP Nexus

SNPshotrs80359595
SNPdbers80359595
MSV3drs80359595
GWAS Ctlgrs80359595
Max Magnitude6
rs80359595, also known as 6678insA, c.6450_6451insA and p.Lys2150_Val2151?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359595(A;A)
Alt rs80359595(A;A)
Reference rs80359595(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914942dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044960.2, RCV000113593.2, RCV000219921.1,