Variant: rs1555087619 

    present in Gene: CLPB
    present in Chromosome: 11
    Position on Chromosome: 72308526
    Alleles of this Variant: C/T

rs1555087619 in CLPB gene and Multiple congenital anomalies PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

PMID 25597511 2015 CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

PMID 25650066 2015 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

PMID 25595726 2015 Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.