Variant: rs119103220 

    present in Gene: MCCC2
    present in Chromosome: 5
    Position on Chromosome: 71602586
    Alleles of this Variant: G/A

rs119103220 in MCCC2 gene and 3-methylcrotonyl CoA carboxylase 2 deficiency PMID 22150417 2012 Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

PMID 25382614 2015 Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

PMID 16010683 2005 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

PMID 17968484 2007 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 22264772 2012 A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 22642865 2012 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

PMID 27601257 2016 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

PMID 11406611 2001 Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

PMID 21071250 2011 Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

PMID 11181649 2001 The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.