Variant information
Systematic Name (NM_004992.3:) |
c.1104_1106del3 |
---|---|
Protein name (NP_004983) |
p.His372del |
Alternate systematic Name (NM_001110792.1:) |
c.1140_1142del3 |
Alternate Protein name (NP_001104262) |
p.(His384del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296173_153296175del3 |
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.1104_1106del3 | p.His372del | Female | Rett syndrome-Not certain | 23 | :Bunyan, D.:: | View details |