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rs80359356

From SNPedia

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


Make rs80359356(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337189
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359356
ebirs80359356
HLIrs80359356
Exacrs80359356
Varsomers80359356
Maprs80359356
PheGenIrs80359356
hapmaprs80359356
1000 genomesrs80359356
hgdprs80359356
ensemblrs80359356
gopubmedrs80359356
geneviewrs80359356
scholarrs80359356
googlers80359356
pharmgkbrs80359356
gwascentralrs80359356
openSNPrs80359356
23andMers80359356
23andMe allrs80359356
SNP Nexus

SNPshotrs80359356
SNPdbers80359356
MSV3drs80359356
GWAS Ctlgrs80359356
Max Magnitude6
rs80359356, also known as 3062delAA, c.2834_2835delAA and p.Lys945Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359356(;)
Alt rs80359356(;)
Reference rs80359356(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.32911326_32911327delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000049220.2, RCV000113099.1,