CDKL5 Variant
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: 2018-06-05 14:40:30
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.