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: rs1554138265
rs1554138265
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		C 0.700 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs1554138265
rs1554138265
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		C 0.700 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs1554138265
rs1554138265
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		C 0.700 GeneticVariation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001