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

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:

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.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.