CDKL5 Variant



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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-03-13 05:52:46

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.