CDKL5 Proband Entry
Entry ID: cp138
Systematic name: c.215T>C
Protein name: p.Ile72Thr
Alternate name(s): p.I72T
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - 50:50
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5 exons 2-21
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs62641235
Source: Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., Marchi, M., Riva, D. (2009) A CDKL5 mutated child with precocious puberty. American Journal of Medical Genetics Part A 149A:1046-1051. Pubmed ID: 19396824
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.215T>C | p.Ile72Thr | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
Displaying a total number of 1 proband entries.
Entry ID: cp138
Systematic name: c.215T>C
Protein name: p.Ile72Thr
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - 50:50
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5 exons 2-21
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., Marchi, M., Riva, D. (2009) A CDKL5 mutated child with precocious puberty. American Journal of Medical Genetics Part A 149A:1046-1051. Pubmed ID: 19396824
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.215T>C | p.Ile72Thr | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
Displaying a total number of 1 proband entries.
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
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Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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