MCCC1, methylcrotonoyl-CoA carboxylase 1, 56922

N. diseases: 42; N. variants: 57
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776641008
rs776641008
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		A 0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs776641008
rs776641008
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		A 0.700 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379 2004
dbSNP: rs776641008
rs776641008
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		A 0.700 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001