present in Gene: TMEM126B
present in Chromosome: 11
Position on Chromosome: 85635669
Alleles of this Variant: A/-
rs886037835 in
TMEM126B gene and
Mitochondrial Diseases
PMID 27374774 2016 Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants.