CDKL5 Variant
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.