Variant information


Systematic Name
(NM_004992.3:)
c.502C > T
Protein name
(NP_004983)
p.Arg168*
Alternate systematic Name
(NM_001110792.1:)
c.538C>T
Alternate Protein name
(NP_001104262)
p.(Arg180*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296777G>A
Mutation type nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.502C > T p.Arg168* Female Rett syndrome-classical 7020 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
2 c.502C > T p.Arg168* Female Rett syndrome-classical 7021 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