CDKL5 Variant
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
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: 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.