CDKL5 Variant
Systematic name: c.2225_2228del
Protein name: p.Glu742Alafs*41
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155
Comments:
Variant last updated on: 2019-10-10 10:59:12
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.2225_2228del | p.Glu742Alafs*41 | Not Rett syndrome | Male | 27599155, Lilles S et al (2016) | cp580 |
Displaying a total number of 1 proband entries matching this variant.