MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 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: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250 2011
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. 17908719 2007
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611 2001
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001