Variant information
Systematic Name (NM_004992.3:) |
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] |
---|---|
Protein name (NP_004983) |
p.Pro376fs |
Alternate systematic Name (NM_001110792.1:) |
c.[1161_1173del13;1174_1299inv;1194_1237del;1299_1300insGGA] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296142_153296154del13;153296016_153296141inv;153296078_153296121del;153296015_153296016insTCC] |
Mutation type | Frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] | p.Pro376fs | Female | Rett syndrome-Not certain | 1603 | :Bunyan, D.:: | View details |