CDKL5 Proband Entry
Entry ID: cp420
Systematic name: c.549dupA
Protein name: p.Leu184Thrfs*22
Alternate name(s): p.L184fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: not stated, not known
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. (2013) Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 71:414-415. Pubmed ID: 23828526
Publication ID: Case 1
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.549dupA | p.Leu184Thrfs*22 | Not known | Female | Directly submitted | cp469 |
Displaying a total number of 1 proband entries.