CDKL5 Variant

   CSV explantation text

Variant ID: cm176
Systematic name: c.2308C>A
Protein name: p.Gln770Lys
Alternate name(s): p.Q770K
Mutation type: missense
Domain: not specified
Pathogenicity class: benign 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: inherited from unaffected mother, both proband and mother with random XCI; In silico prediction: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

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.2308C>A p.Gln770Lys Not Rett syndrome - epileptic encephalopathy Unknown 23064044, Raymond et al (2013) cp361
c.2308C>A p.Gln770Lys Unaffected - unaffected family member Female 23064044, Raymond et al (2013) cp362

Displaying a total number of 2 proband entries matching this variant.