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rs80338709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338709(C;C)
Make rs80338709(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847806
GenePMM2
is asnp
is mentioned by
dbSNPrs80338709
ebirs80338709
HLIrs80338709
Exacrs80338709
Varsomers80338709
Maprs80338709
PheGenIrs80338709
hapmaprs80338709
1000 genomesrs80338709
hgdprs80338709
ensemblrs80338709
gopubmedrs80338709
geneviewrs80338709
scholarrs80338709
googlers80338709
pharmgkbrs80338709
gwascentralrs80338709
openSNPrs80338709
23andMers80338709
23andMe allrs80338709
SNP Nexus

SNPshotrs80338709
SNPdbers80338709
MSV3drs80338709
GWAS Ctlgrs80338709
Max Magnitude0
OMIM601785
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80338709(C;C)
Alt rs80338709(C;C)
Reference rs80338709(G;G)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I not provided
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I not provided
Reversed 0
HGVS NC_000016.9:g.8941663G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008156.4, RCV000153745.2,


[PMID 10922383OA-icon.png] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.


[PMID 11156536OA-icon.png] High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).