Variant: rs119103212 

    present in Gene: MCCC1
    present in Chromosome: 3
    Position on Chromosome: 183045522
    Alleles of this Variant: A/C

rs119103212 in MCCC1 gene and 3-methylcrotonyl CoA carboxylase 1 deficiency PMID 11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

PMID 14680978 2003 Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

PMID 25356967 2015 Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

rs119103212 in MCCC1 gene and Methylcrotonyl-CoA carboxylase deficiency PMID 25356967 2015 Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

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