CDKL5 Variant

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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.