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: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967 2015
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865 2006
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379 2004
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978 2003
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		G 0.800 CausalMutation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
dbSNP: rs119103213
rs119103213
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.800 GeneticVariation UNIPROT