Variant information
Systematic Name (NM_004992.3:) |
c.1152_1292del141 |
---|---|
Protein name (NP_004983) |
p.Pro385_Lys431del |
Alternate systematic Name (NM_001110792.1:) |
c.1188_1328del141 |
Alternate Protein name (NP_001104262) |
p.(Pro397_Lys443del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295987_153296127del141 |
Mutation type | in-frame insertion or 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.1152_1292del141 | p.Pro385_Lys431del | Female | Rett syndrome-classical | 6657 | ::: | View details |