CDKL5 Proband Entry
Entry ID: cp57
Systematic name: c.119C>T
Protein name: p.Ala40Val
Alternate name(s): p.A40V
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early seizure
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2 - 21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs122460159
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.119C>T | p.Ala40Val | Not Rett syndrome - severe epileptic encephalopathy with infantile spasms | Female | 17993579 Rosas-Vargas et al (2008) | cp58 |
c.119C>T | p.Ala40Val | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp199 |
c.119C>T | p.Ala40Val | Not Rett syndrome - ISSX | Female | 22678952 Bahi-Buisson et al (2012) | cp452 |
c.119C>T | p.Ala40Val | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp453 |
Displaying a total number of 4 proband entries.