CDKL5 Proband Entry
Entry ID: cp441
Systematic name: c.2200A>G
Protein name: p.Thr734Ala
Alternate name(s): p.T734A
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - not specified
Chromosomal abnormality: Not known
Method of testing: direct, MECP2 negative, all 21 exons
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs55803460
Source: Das, D.K., Mehta, B., Menon, S.T., Raha, S., Udani, V. (2013) Novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromol Med 15:218-225. Pubmed ID: 23242510
Publication ID: patient 5
Comments:
Entry last updated on: 2018-06-05 13:45:42
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