CDKL5 Proband Entry

Entry ID: cp438

Systematic name: c.3032C>T

Protein name: p.Ala1011Val

Alternate name(s): p.A1011V

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: likely benign variant

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


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 2


Entry last updated on: 2018-06-05 13:45:42

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