CDKL5 Proband Entry

Entry ID: cp399

Systematic name: c.2673G>A

Protein name: p.=

Alternate name(s): p.Gln891Gln

Mutation type: silent

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative, CDKL5 Ex1-22

Source of DNA: not stated

Familial testing: in unaffected mother

Familial X-inactivation:

Control screening: No


Source: 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


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2673G>A p.= Not known - unaffected family member Female Roche Martinez et al (2012) cp402

Displaying a total number of 1 proband entries.