CDKL5 Variant
Variant ID: cm172
Systematic name: c.506_507delCA
Protein name: p.Thr169Argfs*36
Alternate name(s): p.T169RfsX36
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
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: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome - early-onset seizures | Male | 23064044, Raymond et al (2013) | cp357 |
c.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome | Female | 25657822, Fehr S et al (2015) | cp559 |
Displaying a total number of 2 proband entries matching this variant.