Variant information
Systematic Name (NM_004992.3:) |
c.397C > T |
---|---|
Protein name (NP_004983) |
p.Arg133Cys |
Alternate systematic Name (NM_001110792.1:) |
c.433C>T |
Alternate Protein name (NP_001104262) |
p.(Arg145Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296882G>A |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.397C > T | p.Arg133Cys | Female | Rett syndrome-preserved speech | 6994 | Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 | View details |
2 | c.397C > T | p.Arg133Cys | Male | Not Rett synd. | 6995 | Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 | View details |
3 | c.397C > T | p.Arg133Cys | Female | Rett syndrome-classical | 6997 | Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 | View details |