Gene: MCCC1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768785753
rs768785753
MCCC1
0.700 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614

2015
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs186209189
rs186209189
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs186209189
rs186209189
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs186209189
rs186209189
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs199517715
rs199517715
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs199517715
rs199517715
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs199517715
rs199517715
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs201041864
rs201041864
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs201041864
rs201041864
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs201041864
rs201041864
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs201386261
rs201386261
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs201386261
rs201386261
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs201386261
rs201386261
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs202197951
rs202197951
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs202197951
rs202197951
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs202197951
rs202197951
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs376289130
rs376289130
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs376289130
rs376289130
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs376289130
rs376289130
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs398124352
rs398124352
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs398124352
rs398124352
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs398124352
rs398124352
MCCC1
0.700 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012