CDKL5 Variant

Variant ID: cm77

Systematic name: c.2376+5G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: regulatory C-terminal

Pathogenicity class: likely pathogenic variant

dbSNP ID: rs267608657

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: predicted to abolish existing splice site, not tested in RNA

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.2376+5G>A p.? Rett syndrome - not specified Female 19241098, Russo et al (2009) cp112

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