Variant: rs80338709 

    present in Gene: LOC100130283;PMM2
    present in Chromosome: 16
    Position on Chromosome: 8847806
    Alleles of this Variant: G/C

rs80338709 in LOC100130283;PMM2 gene and Congenital disorder of glycosylation type 1A PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 17307006 2007 Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

PMID 9781039 1998 Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 21541725 2011 Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

PMID 17166182 2007 Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 11715002 2002 Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

PMID 11058896 2000 PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

PMID 25355454 2015 A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 11058895 2000 Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

PMID 10066032 1999 Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 11350185 2001 Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 10571956 1999 Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

PMID 11156536 2001 High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

PMID 9497260 1998 Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

PMID 10801058 2000 Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 17186415 2007 Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

rs80338709 in LOC100130283;PMM2 gene and Dysmorphic features PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.