Proband information
Proband id | 7030 |
---|---|
Systematic Name (NM_004992.3:) |
c.917G > A |
Protein name (NP_004983) |
p.Arg306His |
Alternate systematic Name (NM_001110792.1:) |
c.953G>A |
Alternate Protein name (NP_001104262) |
p.(Arg318His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296362C>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | Direct |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.917G > A | p.Arg306His | Female | Rett syndrome-classical | 7030 | 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 |