CDKL5 Variant



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Variant ID: cm83

Systematic name: c.145+4AT(11_13)

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

dbSNP ID:

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: uncertain number of repeats of [AT] region

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.145+4AT(11_13) p.= Not known Unknown 19241098, Russo et al (2009) cp131
c.145+4AT(11_13) p.= Not known Unknown 19241098, Russo et al (2009) cp132
c.145+4AT(11_13) p.= Not known Unknown 19241098, Russo et al (2009) cp133
c.145+4AT(11_13) p.= Not known Unknown 19241098, Russo et al (2009) cp134

Displaying a total number of 4 proband entries matching this variant.