Variant information
Systematic Name (NM_004992.3:) |
c.717del C |
---|---|
Protein name (NP_004983) |
p.Thr240Profs*8 |
Alternate systematic Name (NM_001110792.1:) |
c.753delC |
Alternate Protein name (NP_001104262) |
p.(Thr252Profs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296562delG |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.717del C | p.Thr240Profs*8 | Female | Rett syndrome-classical | 7027 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 | View details |