CDKL5 Variant



   CSV explantation text


Variant ID: cm215

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

dbSNP ID:

First reference: 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

Comments:

Variant last updated on: 2014-10-31 04:29:20

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510, Das et al (2013) cp439

Displaying a total number of 1 proband entries matching this variant.