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rs80359384

From SNPedia

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


Make rs80359384(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337709
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359384
ebirs80359384
HLIrs80359384
Exacrs80359384
Varsomers80359384
Maprs80359384
PheGenIrs80359384
hapmaprs80359384
1000 genomesrs80359384
hgdprs80359384
ensemblrs80359384
gopubmedrs80359384
geneviewrs80359384
scholarrs80359384
googlers80359384
pharmgkbrs80359384
gwascentralrs80359384
openSNPrs80359384
23andMers80359384
23andMe allrs80359384
SNP Nexus

SNPshotrs80359384
SNPdbers80359384
MSV3drs80359384
GWAS Ctlgrs80359384
Max Magnitude6
rs80359384, also known as 3582delA, c.3354_3354delA and p.Leu1118=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359384(;)
Alt rs80359384(;)
Reference rs80359384(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.32911846delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044180.2, RCV000113164.1,