CDKL5 Variant



Variant ID: cm74

Systematic name: c.-162-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 2 and 3)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Comments:

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-162-?_99+?del p.Met1? Rett syndrome - not specified Female 19241098, Russo et al (2009) cp109
c.-162-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977, Erez et al (2009) cp268

Displaying a total number of 2 proband entries matching this variant.