Variant: rs1057516344 

    present in Gene: GCDH
    present in Chromosome: 19
    Position on Chromosome: 12896312
    Alleles of this Variant: C/T

rs1057516344 in GCDH gene and Glutaric aciduria, type 1 PMID 11073722 2000 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

PMID 15505400 2004 Glutaric aciduria type I: outcome in the Republic of Ireland.

PMID 15505393 2004 Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

PMID 16377226 2006 Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.