Variant: rs1057516417 

    present in Gene: HADHA
    present in Chromosome: 2
    Position on Chromosome: 26234216
    Alleles of this Variant: C/T

rs1057516417 in HADHA gene and Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

PMID 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

PMID 21103935 2011 Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

rs1057516417 in HADHA gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

PMID 21103935 2011 Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

PMID 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

PMID 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.