CDKL5 Variant
Variant ID: cm80
Systematic name: c.[404-53T>C;3003C>T;3084G>A]
Protein name: p.=
Alternate name(s): p.[H1001H;T1028T]
Mutation type: combination/multiple mutations
Domain: serine-threonine kinase site
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:
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.[404-53T>C;3003C>T;3084G>A] | p.= | Not known | Female | 19241098, Russo et al (2009) | cp127 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | Unaffected - unaffected family member | Female | 19241098, Russo et al (2009) | cp128 |
Displaying a total number of 2 proband entries matching this variant.