MCCC1, methylcrotonoyl-CoA carboxylase 1, 56922

N. diseases: 42; N. variants: 57
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
dbSNP: rs1394547323
rs1394547323 		1.000 0.120 3 183033992 frameshift variant -/T delins 1.4E-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 1 2013 2013
dbSNP: rs119103212
rs119103212 		0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-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 0.800 1.000 3 2001 2015
dbSNP: rs119103212
rs119103212 		0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2015
dbSNP: rs119103218
rs119103218 		1.000 0.120 3 183037432 missense variant A/C snv
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 0
dbSNP: rs376289130
rs376289130 		1.000 0.120 3 183039101 missense variant A/C;G snv 4.0E-05 1.1E-04
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 11 2001 2016
dbSNP: rs773433541
rs773433541 		1.000 0.120 3 183057358 missense variant A/C;G snv 8.1E-06
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 0
dbSNP: rs119103215
rs119103215 		1.000 0.120 3 183039093 missense variant A/G snv
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 0
dbSNP: rs150862707
rs150862707 		1.000 0.120 3 183052169 stop gained A/G;T snv 4.1E-04; 1.2E-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 0
dbSNP: rs757362635
rs757362635 		1.000 0.120 3 183071290 missense variant A/G;T snv 2.4E-05; 1.2E-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 0
dbSNP: rs199914879
rs199914879 		1.000 0.120 3 183071208 splice donor variant A/T snv 8.0E-06 1.4E-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 0
dbSNP: rs1553856095
rs1553856095 		1.000 0.120 3 183045508 frameshift variant AT/- delins
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 0
dbSNP: rs727504002
rs727504002 		1.000 0.120 3 183037286 frameshift variant C/- del 1.2E-05 2.8E-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 2005 2012
dbSNP: rs398124350
rs398124350 		1.000 0.120 3 183045422 frameshift variant C/- delins
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 0
dbSNP: rs7640612
rs7640612 		1.000 0.040 3 183025479 intron variant C/A snv 0.50
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs905321122
rs905321122 		1.000 0.120 3 183020177 stop gained C/A;G snv 4.0E-06
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 1 2012 2012
dbSNP: rs398124352
rs398124352 		1.000 0.120 3 183039088 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 8.0E-06
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 11 2001 2016
dbSNP: rs186209189
rs186209189 		1.000 0.120 3 183071223 missense variant C/A;T snv 4.0E-06; 8.0E-06
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 11 2001 2016
dbSNP: rs748201122
rs748201122 		1.000 0.120 3 183071310 missense variant C/A;T snv 4.0E-06
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 0
dbSNP: rs119103214
rs119103214 		1.000 0.120 3 183037218 missense variant C/G snv
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 0
dbSNP: rs199517715
rs199517715 		1.000 0.120 3 183092545 missense variant C/T snv 4.0E-05 3.5E-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 11 2001 2016
dbSNP: rs201386261
rs201386261 		1.000 0.120 3 183041738 missense variant C/T snv 2.4E-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 11 2001 2016
dbSNP: rs202197951
rs202197951 		1.000 0.120 3 183072469 missense variant C/T snv 1.2E-05 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 11 2001 2016
dbSNP: rs754437245
rs754437245 		1.000 0.120 3 183057342 missense variant C/T snv 1.6E-05 7.0E-06
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 11 2001 2016
dbSNP: rs768785753
rs768785753 		1.000 0.120 3 183039072 missense variant C/T snv 2.8E-05 3.5E-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 11 2001 2016