CDKL5 Variant
Systematic name: c.2714-47C>T
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
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: potential splicing changes? Not tested
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.2714-47C>T | p.= | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp398 |
Displaying a total number of 1 proband entries matching this variant.