CDKL5 Variant

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Variant ID: cm244
Systematic name: c.812T>C
Protein name: p.Leu271Pro
Alternate name(s): p.L271P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant

First reference: Moseley, B.D., Dhamija, R., Wirrell, E.C., Nickels, K.C. (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatric Neurology 46:101-105. Pubmed ID: 22264704

Comments: de novo missense mutation; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, Polyphen2 = probably damaging, AlignGVGD = C65 (pathogenic)

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.812T>C p.Leu271Pro Not Rett syndrome - epileptic encephalopathy Female 22264704, Moseley et al (2012) cp496

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