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rs80359661

From SNPedia

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


Make rs80359661(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330992
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359661
ebirs80359661
HLIrs80359661
Exacrs80359661
Varsomers80359661
Maprs80359661
PheGenIrs80359661
hapmaprs80359661
1000 genomesrs80359661
hgdprs80359661
ensemblrs80359661
gopubmedrs80359661
geneviewrs80359661
scholarrs80359661
googlers80359661
pharmgkbrs80359661
gwascentralrs80359661
openSNPrs80359661
23andMers80359661
23andMe allrs80359661
SNP Nexus

SNPshotrs80359661
SNPdbers80359661
MSV3drs80359661
GWAS Ctlgrs80359661
Max Magnitude6
rs80359661, also known as 983delA, c.755_755delA and p.Asp252Alafs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359661(;)
Alt rs80359661(;)
Reference rs80359661(A;A)
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.32905129delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045246.2, RCV000114135.1,