CDKL5 Variant
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: 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.