Variant information

Systematic Name
c.916C > T
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.916C > T p.Arg306Cys Female Rett syndrome-preserved speech 6996 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