CDKL5 Variant



   CSV explantation text


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: 2014-03-13 05:43:05

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.