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rs80359719

From SNPedia

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


Make rs80359719(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32371046
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359719
ebirs80359719
HLIrs80359719
Exacrs80359719
Varsomers80359719
Maprs80359719
PheGenIrs80359719
hapmaprs80359719
1000 genomesrs80359719
hgdprs80359719
ensemblrs80359719
gopubmedrs80359719
geneviewrs80359719
scholarrs80359719
googlers80359719
pharmgkbrs80359719
gwascentralrs80359719
openSNPrs80359719
23andMers80359719
23andMe allrs80359719
SNP Nexus

SNPshotrs80359719
SNPdbers80359719
MSV3drs80359719
GWAS Ctlgrs80359719
Max Magnitude6
rs80359719, also known as 8806delAA, c.8578_8579delAA and p.Lys2860Glufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359719(;)
Alt rs80359719(;)
Reference rs80359719(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32945183_32945184delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113965.1,