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: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.