Variant: rs144078282 

    present in Gene: CLPB
    present in Chromosome: 11
    Position on Chromosome: 72302339
    Alleles of this Variant: T/A;C

rs144078282 in CLPB gene and 3-methylglutaconic aciduria type 7 PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

PMID 28687938 2017 A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.