CDKL5 Variant



   CSV explantation text


Variant ID: cm156

Systematic name: c.1854delC

Protein name: p.Asp618Glufs*3

Alternate name(s): p.D618EfsX3

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group (2012) Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 43:37-43. Pubmed ID: 22430159

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.1854delC p.Asp618Glufs*3 Rett syndrome - Hanefeld Female 22430159, Pini et al (2012) cp339

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