CDKL5 Proband Entry
Entry ID: cp6
Systematic name: c.[145+17A>G;3003C>T;3084G>A]
Protein name: p.=
Alternate name(s): p.[H1001H;T1028T]
Mutation type: combination/multiple mutations
Domain: catalytic domain
Pathogenicity class: benign variant
Gender: Unknown
Phenotype: Not known - normal control
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: found 2/267 chromosomes
dbSNP ID:
Source: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549
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.[145+17A>G;3003C>T;3084G>A] | p.= | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp5 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not known - normal control | Unknown | 15499549 Tao et al (2004) | cp7 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp328 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp329 |
Displaying a total number of 4 proband entries.