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rs80359594

From SNPedia

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


Make rs80359594(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340804
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359594
ebirs80359594
HLIrs80359594
Exacrs80359594
Varsomers80359594
Maprs80359594
PheGenIrs80359594
hapmaprs80359594
1000 genomesrs80359594
hgdprs80359594
ensemblrs80359594
gopubmedrs80359594
geneviewrs80359594
scholarrs80359594
googlers80359594
pharmgkbrs80359594
gwascentralrs80359594
openSNPrs80359594
23andMers80359594
23andMe allrs80359594
SNP Nexus

SNPshotrs80359594
SNPdbers80359594
MSV3drs80359594
GWAS Ctlgrs80359594
Max Magnitude6
rs80359594, also known as 6677delAA, c.6449_6450delAA and p.Lys2150Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359594(;)
Alt rs80359594(;)
Reference rs80359594(AA;AA)
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.32914941_32914942delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044958.2, RCV000113591.1,