Proband information



Proband id 6994
Systematic Name c.397C > T
Protein name p.Arg133Cys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA blood
Carrier Y
Carrier result Mother carried mutation but no symptoms,brother same mutation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-preserved speech
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.397C > T p.Arg133Cys missense MBD Mutation associated with disease 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
2 c.397C > T p.Arg133Cys missense MBD Mutation associated with disease 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
3 c.397C > T p.Arg133Cys missense MBD Mutation associated with disease 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