CDKL5 Variant

Variant ID: cm192
Systematic name: c.656A>C
Protein name: p.Gln219Pro
Alternate name(s): p.Q219P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
First reference: Hagebeuk, E.E.O., van den Bossche, R.A.S., de Weerd, A.W. (2013) Respiratory and sleep disturbances in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental Medicine & Child Neurology 55:480-484. Pubmed ID: 23151060

Comments: highly conserved residue, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65); not in normal population

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.656A>C p.Gln219Pro Rett syndrome - atypical Female 23151060, Hagebeuk et al (2013) cp405

Displaying a total number of 1 proband entries matching this variant.