MECP2 Proband Search



This form allows you to search the proband database for MECP2. 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
Controls screened
Familial studies
Chromosomal abnormalities
Method of testing
Citation
dbSNP ID
Database ID
Group identical entries
Field Option Entry
Mutation
Reference
Mutation Effects Domain 5'UTR N-terminal region MBD Inter-domain region TRD NLS C-terminal region 3'UTR Intronic
Type of sequence change Silent Misense Nonsense Frameshift insertion or deletion In-frame insertion or deletion Frameshift combined insertion and deletion In-frame combined insertion and deletion C-terminal region 3'UTR variation 5'UTR variation Intronic variation
Pathogenicity Pathogenic Likely pathogenic Uncertain significance Likely benign Benign
Proband details Phenotype Affected, Rett syndrome Affected, not Rett syndrome Unaffected controls Phenotype unknown
Gender Female Male Unknown
Sporadic or familial ?
Database attributes Entry ID