CDKL5 Proband Entry
Entry ID: cp467
Systematic name: c.1954C>T
Protein name: p.Gln652*
Alternate name(s): p.Q652X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not known
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, not stated
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608647
Source: Directly submitted
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.
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
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