Variant: rs1167218743 

    present in Gene: HADHA;GAREM2
    present in Chromosome: 2
    Position on Chromosome: 26192309
    Alleles of this Variant: C/A;G

rs1167218743 in HADHA;GAREM2 gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy 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 14630990 2004 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

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 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.