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rs80359300

From SNPedia

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


Make rs80359300(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333183
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359300
ebirs80359300
HLIrs80359300
Exacrs80359300
Varsomers80359300
Maprs80359300
PheGenIrs80359300
hapmaprs80359300
1000 genomesrs80359300
hgdprs80359300
ensemblrs80359300
gopubmedrs80359300
geneviewrs80359300
scholarrs80359300
googlers80359300
pharmgkbrs80359300
gwascentralrs80359300
openSNPrs80359300
23andMers80359300
23andMe allrs80359300
SNP Nexus

SNPshotrs80359300
SNPdbers80359300
MSV3drs80359300
GWAS Ctlgrs80359300
Max Magnitude6
rs80359300, also known as 1933delC, c.1705_1705delC and p.Gln569Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359300(;)
Alt rs80359300(;)
Reference rs80359300(C;C)
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.32907320delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043864.2, RCV000112961.1,