CDKL5 Variant

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Variant ID: cm214
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

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: clinical significance uncertain, but unlikely to be pathogenic due to location (exon 21); in silico predictions: alignGVGD, SIFT, MutationTaster, Polyphen2 all benign

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.3032C>T p.Ala1011Val Rett syndrome - atypical Female 23242510, Das et al (2013) cp438

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