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rs80359777

From SNPedia

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


Make rs80359777(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332471
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359777
ebirs80359777
HLIrs80359777
Exacrs80359777
Varsomers80359777
Maprs80359777
PheGenIrs80359777
hapmaprs80359777
1000 genomesrs80359777
hgdprs80359777
ensemblrs80359777
gopubmedrs80359777
geneviewrs80359777
scholarrs80359777
googlers80359777
pharmgkbrs80359777
gwascentralrs80359777
openSNPrs80359777
23andMers80359777
23andMe allrs80359777
SNP Nexus

SNPshotrs80359777
SNPdbers80359777
MSV3drs80359777
GWAS Ctlgrs80359777
Max Magnitude6
rs80359777, also known as 1221delAA, c.993_994delAA and p.Lys331_Ile332AsnPhefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359777(;)
Alt rs80359777(;)
Reference rs80359777(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.32906608_32906609delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045921.2, RCV000112871.1,