{{Rsnum
|rsid=34258285
|Gene=PMM2
|Chromosome=16
|position=8813057
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.01286
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=PMM2
}}{{Venter SNP
|rsid=34258285
|allele=C
|frequency=
|uid=1103645419295
|type=heterozygous_SNP
|hugo=PMM2
|ensembl gene=ENSG00000140650
|ensembl transcript=ENST00000268261
|sift=TOLERATED
|disease=Defects in PMM2 are the cause of congenital disorder of glycosylation type Ia (CDG-Ia) (MIM:212065); also known as carbohydrate-deficient glycoprotein type 1 syndrome (CDGS1) or Jaeken syndrome or disease. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N- glycosylation. CDG-Ia is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}