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
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: 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.