CDKL5 Variant

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Variant ID: cm79
Systematic name: c.404-53T>C
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: serine-threonine kinase site
Pathogenicity class: benign variant

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: found in normal female carrier; in cis with p.H1001 and p.T1028T

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.