Variant: rs121964976 

    present in Gene: GLDC
    present in Chromosome: 9
    Position on Chromosome: 6589230
    Alleles of this Variant: C/G;T

rs121964976 in GLDC gene and Epilepsy, Generalized PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

rs121964976 in GLDC gene and Nonketotic Hyperglycinemia PMID 15791207 2005 Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.

PMID 17361008 2007 Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

PMID 12126939 2002 Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

PMID 11286506 2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 11592811 2001 Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

PMID 1634607 1992 Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

PMID 15670722 2005 Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.

PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 28737873 2017 Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.

PMID 1996985 1991 Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.

rs121964976 in GLDC gene and Obesity PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.