CDKL5 Variant



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Variant ID: cm13

Systematic name: c.2343delG

Protein name: p.Arg781Serfs*3

Alternate name(s): p.R781fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

dbSNP ID: rs62643614

First reference: Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., Ariani, F., Hayek, G., Balestri, P., Bergo, A., Badaracco, G., Zappella, M., Broccoli, V., Renieri, A., Kilstrup-Nielsen, C., Landsberger, N. (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 14:1935-1946. Pubmed ID: 15917271

Comments:

Variant last updated on: 2014-03-13 05:38:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2343delG p.Arg781Serfs*3 Rett syndrome - early seizure Female 15917271, Mari et al (2005) cp22

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