Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1164_1207 del(;)1231_1233delAGC ] p.[Pro389*(;)Ser411del] 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 View details