Variant: rs121964983 

    present in Gene: AMT;NICN1
    present in Chromosome: 3
    Position on Chromosome: 49422237
    Alleles of this Variant: T/C

rs121964983 in AMT;NICN1 gene and Nonketotic Hyperglycinemia PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

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

PMID 9600239 1998 Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH.

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 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

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

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.