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: rs119103212
rs119103212
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		C 0.800 GeneticVariation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967 2015
dbSNP: rs119103212
rs119103212
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		C 0.800 GeneticVariation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978 2003
dbSNP: rs119103212
rs119103212
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		C 0.800 GeneticVariation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
dbSNP: rs119103212
rs119103212
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.800 GeneticVariation UNIPROT