Variant information


Systematic Name c.[1164_1207 del(;)1231_1233delAGC ]
Protein name p.[Pro389*(;)Ser411del]
Mutation type nonsense,frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother asymptomatic carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-x-linked mental retardation
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.[1164_1207 del(;)1231_1233delAGC ] p.[Pro389*(;)Ser411del] nonsense,frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 6998 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