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