Variant information


Systematic Name c.397C > T
Protein name p.Arg133Cys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection
Extent
Number of chromosomes checked
Carrier status checked Yes
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 References
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