CDKL5 Variant



   CSV explantation text


Variant ID: cm75

Systematic name: c.902_903dupGA

Protein name: p.Leu302Aspfs*49

Alternate name(s): p.L302DfsX49

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608546

First reference: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Comments:

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.902_903dupGA p.Leu302Aspfs*49 Not Rett syndrome - Angelman syndrome Female 19241098, Russo et al (2009) cp110

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