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: rs762463137
rs762463137
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		GC 0.700 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
dbSNP: rs762463137
rs762463137
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		GC 0.700 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001