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rs28936415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Congenital Disorder of Glycosylation Type 1a
(A;G) 4 carrier of Congenital Disorder of Glycosylation Type 1a allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position8811153
GenePMM2
is asnp
is mentioned by
dbSNPrs28936415
ebirs28936415
HLIrs28936415
Exacrs28936415
Varsomers28936415
Maprs28936415
PheGenIrs28936415
hapmaprs28936415
1000 genomesrs28936415
hgdprs28936415
ensemblrs28936415
gopubmedrs28936415
geneviewrs28936415
scholarrs28936415
googlers28936415
pharmgkbrs28936415
gwascentralrs28936415
openSNPrs28936415
23andMers28936415
23andMe allrs28936415
SNP Nexus

SNPshotrs28936415
SNPdbers28936415
MSV3drs28936415
GWAS Ctlgrs28936415
GMAF0.007805
Max Magnitude5

rs28936415, also known as c.422G>A, p.Arg141His and R141H, represents a rare variant in the PMM2 gene on chromosome 16.

ClinVar and other sources designate this variant as pathogenic for Congenital disorder of glycosylation, type 1a, which is a recessive disorder.

OMIM601785
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
Variant0001
Relatedalso
Neighborrs28938475
Distance38
ClinVar
Risk rs28936415(A;A)
Alt rs28936415(A;A)
Reference rs28936415(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.8905010G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008145.5, RCV000078590.3,


[PMID 9140401] Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).


[PMID 9781039OA-icon.png] Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.