CDKL5 Variant

   CSV explantation text

Variant ID: cm193
Systematic name: c.660_664dup
Protein name: p.Thr222Ilefs*8
Alternate name(s): p.T222IfsX8
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: 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


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.660_664dup p.Thr222Ilefs*8 Rett syndrome - atypical Female 23151060, Hagebeuk et al (2013) cp406

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