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: rs1484347924
rs1484347924
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
CUI: C0268600
Disease:
3-methylcrotonyl CoA carboxylase 1 deficiency 		A 0.700 CausalMutation CLINVAR Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865 2006