Variant information
Systematic Name (NM_004992.3:) |
c.916C > T |
---|---|
Protein name (NP_004983) |
p.Arg306Cys |
Alternate systematic Name (NM_001110792.1:) |
c.952C>T |
Alternate Protein name (NP_001104262) |
p.(Arg318Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296363G>A |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.916C > T | p.Arg306Cys | Female | Rett syndrome-preserved speech | 6996 | 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 |