rs28936415

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811153

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs28936415
dbSNP (classic)	rs28936415
ClinGen	rs28936415
ebi	rs28936415
HLI	rs28936415
Exac	rs28936415
Gnomad	rs28936415
Varsome	rs28936415
LitVar	rs28936415
Map	rs28936415
PheGenI	rs28936415
Biobank	rs28936415
1000 genomes	rs28936415
hgdp	rs28936415
ensembl	rs28936415
geneview	rs28936415
scholar	rs28936415
google	rs28936415
pharmgkb	rs28936415
gwascentral	rs28936415
openSNP	rs28936415
23andMe	rs28936415
SNPshot	rs28936415
SNPdbe	rs28936415
MSV3d	rs28936415
GWAS Ctlg	rs28936415

GMAF

0.007805

Max Magnitude

5

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.

OMIM	601785
Desc	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
Variant	0001
Related	also

ClinVar
Risk	Rs28936415(A;A)
Alt	Rs28936415(A;A)
Reference	Rs28936415(G;G)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation
Reversed	0
HGVS	NC_000016.9:g.8905010G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008145.6, RCV000078590.5, RCV000277720.1,

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

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