CDKL5 Proband Entry
Entry ID: cp486
Systematic name: c.1612A>G
Protein name: p.Thr538Ala
Alternate name(s): p.T538A
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
Gender: Male
Phenotype: Rett syndrome - male variant
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: direct, exons 2-21
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Directly submitted
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.1612A>G | p.Thr538Ala | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp524 |
Displaying a total number of 1 proband entries.
Entry ID: cp486
Systematic name: c.1612A>G
Protein name: p.Thr538Ala
Alternate name(s):
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
Gender: Male
Phenotype: Rett syndrome - male variant
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: direct, exons 2-21
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Directly submitted
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.1612A>G | p.Thr538Ala | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp524 |
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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