Variant: rs113112630 

    present in Gene: HADHB
    present in Chromosome: 2
    Position on Chromosome: 26263480
    Alleles of this Variant: G/A

rs113112630 in HADHB 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.