CDKL5 Variant



   CSV explantation text


Variant ID: cm82

Systematic name: c.99+29T>G

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: ATP binding region

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs267608422

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.99+29T>G p.= Not known Unknown 19241098, Russo et al (2009) cp130

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