Variant: rs121434368

present in Gene: GCDH;SYCE2 present in Chromosome: 19 Position on Chromosome: 12899471 Alleles of this Variant: C/T

rs121434368 in GCDH;SYCE2 gene and Glutaric aciduria, type 1 PMID 24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

PMID 14707522 2003 Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

PMID 18775954 2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 8900227 1996 Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

PMID 9600243 1998 The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

PMID 8900228 1996 Glutaric aciduria type I in the Arab and Jewish communities in Israel.