Variant: rs121434284 

    present in Gene: IVD
    present in Chromosome: 15
    Position on Chromosome: 40405952
    Alleles of this Variant: T/C

rs121434284 in IVD gene and Isovaleryl-CoA dehydrogenase deficiency PMID 28535199 2017 Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

PMID 9665741 1998 Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

PMID 22350545 2012 Clinical variability of isovaleric acidemia in a genetically homogeneous population.

PMID 23587913 2013 Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.

PMID 22004070 2011 Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

PMID 2063866 1991 Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.