Variant: rs1555745989 

    present in Gene: ATP5F1D
    present in Chromosome: 19
    Position on Chromosome: 1244118
    Alleles of this Variant: T/G

rs1555745989 in ATP5F1D gene and MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1555745989 in ATP5F1D gene and Mitochondrial Diseases PMID 29478781 2018 Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.