MCCC1, methylcrotonoyl-CoA carboxylase 1, 56922

N. diseases: 42; N. variants: 57
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs762463137
rs762463137 		1.000 0.120 3 183041570 frameshift variant -/C delins 4.0E-05; 8.0E-06 2.1E-05
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2001 2005