CDKL5 Proband Entry
Entry ID: cp199
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: Not Rett syndrome - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs122460159
Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792
Publication ID: C
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 | Rett syndrome - early seizure | Female | 17993579 Rosas-Vargas et al (2008) | cp57 |
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 - 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.