CDKL5 Proband Entry
Entry ID: cp50
Systematic name: c.2378T>C
Protein name: p.Val793Ala
Alternate name(s): p.V793A
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Not Rett syndrome - not certain
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: lymphocyte
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs62643617
Source: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748
Publication ID: patient 11
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.