CDKL5 Proband Entry
Entry ID: cp8
Systematic name: c.455G>T
Protein name: p.Cys152Phe
Alternate name(s): p.C152F
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - not certain
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs122460157
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: Family 1, II:2
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.