Variant information
Systematic Name (NM_004992.3:) |
c.1147_1174del28 |
---|---|
Protein name (NP_004983) |
p.Leu383fs |
Alternate systematic Name (NM_001110792.1:) |
c.1183_1210del28 |
Alternate Protein name (NP_001104262) |
p.(Leu395Serfs*17) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296105_153296132del28 |
Mutation type | frameshift 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.1147_1174del28 | p.Leu383fs | Female | Not Rett synd. | 6639 | ::: | View details |