Variant: rs121434367 

    present in Gene: SYCE2;GCDH
    present in Chromosome: 19
    Position on Chromosome: 12899486
    Alleles of this Variant: C/T

rs121434367 in SYCE2;GCDH gene and Glutaric aciduria, type 1 PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 19630565 2009 Genetics, medicine, and the Plain people.

PMID 28438223 2017 Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

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

PMID 1951469 1991 Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

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

PMID 18926513 2008 Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

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 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 24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

PMID 22728054 2012 Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

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

PMID 17478444 2007 Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.