CDKL5 Variant

   CSV explantation text

Variant ID: cm170
Systematic name: c.2531dupA
Protein name: p.His844Glnfs*66
Alternate name(s): p.H844QfsX66
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant

First reference: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044


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.2531dupA p.His844Glnfs*66 Not known Female 23064044, Raymond et al (2013) cp355

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