CDKL5 Proband Entry



Entry ID: cp439

Systematic name: c.[1767C>T(;)2995G>A]

Protein name: p.[=(;)Val999Met]

Alternate name(s): p.[H589H(;)V999M]

Mutation type: combination/multiple mutations

Domain: not specified

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - atypical (early seizure variant)

Other mutation:

X-inactivation results: Yes - skewed (>80%)

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: No

dbSNP ID:

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 3

Comments:

Entry last updated on: 2014-10-31 04:40:12

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