CDKL5 Variant



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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

dbSNP ID:

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: 2014-03-13 05:52:46

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.