CDKL5 Proband Entry



Entry ID: cp60

Systematic name: c.194G>A

Protein name: p.Arg65Gln

Alternate name(s): p.R65Q

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - atypical (not early-onset seizures)

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2 - 21

Source of DNA: blood

Familial testing: found in unaffected father

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs267608436

Source: Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, J., Girard, B., N'Guyen Morel, M.A., Gitiaux, C., Lazaro, L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178. Pubmed ID: 17993579

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:06:07

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.194G>A p.Arg65Gln Not known - unaffected family member Male 17993579 Rosas-Vargas et al (2008) cp61

Displaying a total number of 1 proband entries.