Variant: rs781030239

present in Gene: PCCA;PCCA-DT present in Chromosome: 13 Position on Chromosome: 100089189 Alleles of this Variant: GCAGCTGATG/-

rs781030239 in PCCA;PCCA-DT gene and Propionic acidemia PMID 27489777 2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

PMID 11592820 2001 Structure of the PCCA gene and distribution of mutations causing propionic acidemia.