CDKL5 Proband Entry
Entry ID: cp10
Systematic name: c.525A>T
Protein name: p.Arg175Ser
Alternate name(s): p.R175S
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - not certain
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: No - normal
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: found in affected monozygotic twin sister, not in unaffected family members
Familial X-inactivation:
Control screening: No
dbSNP ID: rs61749700
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 2, II:3
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.525A>T | p.Arg175Ser | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp9 |
c.525A>T | p.Arg175Ser | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp341 |
Displaying a total number of 2 proband entries.