CDKL5 Proband Search



This form allows you to search the proband database for CDKL5. Click here if you'd like to search the variant database only.

Search by one or more fields as required (Boolean operator = AND). Tip: leaving the form blank will return the full list of probands.

Searching by the protein name will query both HGVS nomenclature and previously known names. Please note that not all possible alternative nomenclature may be included.

The 'Group identical entries' function will combine entries matching perfectly across ALL the fields you have selected as a single results (please uncheck the 'Database ID' field before proceeding).


Select output to display
Systematic name
Protein name (HGVS)
Alternative name(s)
Domain affected
Mutation type
Pathogenicity
Phenotype
Gender
Other mutations
X-inactivation results
Controls screened
Familial studies
Familial X-inactivation studies
Chromosomal abnormalities
Method of testing
Citation
dbSNP ID
Database ID
Group identical entries
Field Option Entry
Mutation
Reference
Mutation Effects Domain
Pathogenicity Pathogenic
Likely pathogenic
Uncertain significance
Likely benign
Benign
Mutation type Missense
Nonsense
Silent
Intronic variant
Splicing variant
Exonic deletion or duplication
Frameshift insertion and/or deletion
In-frame insertion and/or deletion
5'UTR
3'UTR
Complex chromosomal arrangement
Multiple mutations
Uncertain/other
Proband details Phenotype Affected, Rett syndrome
Affected, not Rett syndrome
Unaffected controls
Phenotype unknown
Gender Female
Male
Unknown
Database attributes Entry ID