CDKL5 Variant
Variant ID: cm54
Systematic name: c.1311dupC
Protein name: p.Ser438Glnfs*25
Alternate name(s): p.S438QfsX25 (p.S438fs)
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608623
First reference: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821
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.1311dupC | p.Ser438Glnfs*25 | Rett syndrome - atypical | Female | 18790821, Bahi-Buisson et al (2008) | cp70 |
c.1311dupC | p.Ser438Glnfs*25 | Rett syndrome - atypical | Female | 19793311, Nemos et al (2009) | cp100 |
Displaying a total number of 2 proband entries matching this variant.