Gene: MCCC1 ×
Source: INFERRED ×
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 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: rs772395858
rs772395858
MCCC1
C 0.700 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1394547323
rs1394547323
MCCC1
GT 0.700 CausalMutation CLINVAR [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. 24078573

2013
dbSNP: rs544349961
rs544349961
MCCC1
A 0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs727504002
rs727504002
MCCC1
G 0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs772395858
rs772395858
MCCC1
C 0.700 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs776641008
rs776641008
MCCC1
A 0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs905321122
rs905321122
MCCC1
A 0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs1484347924
rs1484347924
MCCC1
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
dbSNP: rs727504002
rs727504002
MCCC1
G 0.700 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs762463137
rs762463137
MCCC1
GC 0.700 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs772395858
rs772395858
MCCC1
C 0.700 GeneticVariation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379

2004
dbSNP: rs776641008
rs776641008
MCCC1
A 0.700 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379

2004
dbSNP: rs762463137
rs762463137
MCCC1
GC 0.700 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001