TMEM126B, transmembrane protein 126B, 55863

N. diseases: 56; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037835
rs886037835
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C0751651
Disease:
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR 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. 27374774 2016
dbSNP: rs141542003
rs141542003
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C4748830
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.700 GeneticVariation UNIPROT
dbSNP: rs573006534
rs573006534
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C4748830
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886037835
rs886037835
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C4748830
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886037857
rs886037857
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C4748830
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		T 0.700 CausalMutation CLINVAR
dbSNP: rs141542003
rs141542003
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
CUI: C0342776
Disease:
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 GeneticVariation BEFREE A complementation study in fibroblasts confirmed that the p.G212V mutation caused the complex I deficiency. 29093663 2017