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: 2014-03-13 06:05:23

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