Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865

2006
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379

2004
dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978

2003
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978

2003
dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs119103212
rs119103212
MCCC1
0.800 GeneticVariation UNIPROT

dbSNP: rs119103213
rs119103213
MCCC1
0.800 GeneticVariation UNIPROT

dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs186209189
rs186209189
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs199517715
rs199517715
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs201041864
rs201041864
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs201386261
rs201386261
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs202197951
rs202197951
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs376289130
rs376289130
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs398124352
rs398124352
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs746500530
rs746500530
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs754437245
rs754437245
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs755328329
rs755328329
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016