CYC1, cytochrome c1, 1537

N. diseases: 44; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777041
rs587777041
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C3809553
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 		0.800 GeneticVariation UNIPROT Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. 23910460 2013
dbSNP: rs587777042
rs587777042
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C3809553
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 		0.800 GeneticVariation UNIPROT Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. 23910460 2013
dbSNP: rs587777041
rs587777041
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C3809553
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777042
rs587777042
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C3809553
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1003624852
rs1003624852
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C0751651
Disease:
Mitochondrial Diseases 		0.010 GeneticVariation BEFREE G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b. 26245902 2015
dbSNP: rs587777042
rs587777042
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C0022638
Disease:
Ketosis 		0.010 GeneticVariation BEFREE Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. 23910460 2013
dbSNP: rs587777042
rs587777042
Entrez Id: 1537
Gene Symbol: CYC1
CYC1
CUI: C0020456
Disease:
Hyperglycemia 		0.010 GeneticVariation BEFREE Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. 23910460 2013