CDKL5 Proband Entry
Entry ID: cp61
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: Male
Phenotype: Not known - unaffected family member
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2 - 21
Source of DNA: blood
Familial testing: No
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: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.194G>A | p.Arg65Gln | Rett syndrome - atypical (not early-onset seizures) | Female | 17993579 Rosas-Vargas et al (2008) | cp60 |
Displaying a total number of 1 proband entries.