CDKL5 Proband Entry



Entry ID: cp402

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: Not known - unaffected family member

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: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

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

Comments:

Entry last updated on: 2014-05-15 05:58:00

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cDNA name Protein name Phenotype Gender Reference Proband ID
c.2673G>A p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp399

Displaying a total number of 1 proband entries.