CDKL5 Variant



Variant ID: cm188

Systematic name: c.1550delT

Protein name: p.Phe517Serfs*6

Alternate name(s): p.F517SfsX6

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Variant last updated on: 2014-05-15 05:57:52

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1550delT p.Phe517Serfs*6 Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp382

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