Variant information

Systematic Name
c.917G > A
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.917G > A p.Arg306His Female Rett syndrome-classical 7030 Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 View details