CDKL5 Variant

   CSV explantation text

Variant ID: cm189
Systematic name: c.64+26G>A
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: ATP binding region
Pathogenicity class: benign variant

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


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.64+26G>A p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp383
c.64+26G>A p.= Unaffected - unaffected family member Female Roche Martinez et al (2012) cp384

Displaying a total number of 2 proband entries matching this variant.