CDKL5 Variant

   CSV explantation text

Variant ID: cm84
Systematic name: c.2046+79G>A
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: not specified
Pathogenicity class: benign variant
dbSNP ID: rs147819758

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


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.2046+79G>A p.= Not known Unknown 19241098, Russo et al (2009) cp135

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