CDKL5 Variant

Variant ID: cm191
Systematic name: c.2673G>A
Protein name: p.=
Alternate name(s): p.Gln891Gln
Mutation type: silent
Domain: regulatory C-terminal
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.2673G>A p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp399
c.2673G>A p.= Unaffected - unaffected family member Female Roche Martinez et al (2012) cp402

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