CDKL5 Variant

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Variant ID: cm164
Systematic name: c.59G>A
Protein name: p.Gly20Asp
Alternate name(s): p.G20D
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: likely pathogenic variant

First reference: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Comments: conserved amino acid in the catalytic domain

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.59G>A p.Gly20Asp Not known Female 23064044, Raymond et al (2013) cp348

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