Variant information
Systematic Name (NM_004992.3:) |
c.[777C>T(;)1157_1197del41] |
---|---|
Protein name (NP_004983) |
p.[Ala259Ala(;)Leu386fs] |
Alternate systematic Name (NM_001110792.1:) |
c.[813C>T;1193_1233del41] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296502G>A;153296082_153296122del41] |
Mutation type | Silent, frameshift insertion or deletion |
Domain | TRD-NLS, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[777C>T(;)1157_1197del41] | p.[Ala259Ala(;)Leu386fs] | Female | Rett syndrome-Not certain | 1845 | :Bunyan, D.:: | View details |