Variant information
Systematic Name (NM_004992.3:) |
c.1163_1216del54 |
---|---|
Protein name (NP_004983) |
p.Pro388_Pro405del |
Alternate systematic Name (NM_001110792.1:) |
c.1199_1252del54 |
Alternate Protein name (NP_001104262) |
p.(Pro400_Pro417del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296063_153296116del54 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1163_1216del54 | p.Pro388_Pro405del | Unknown | Rett syndrome-Not certain | 919 | ::: | View details |