Variant information


Systematic Name
(NM_004992.3:)		 c.808C > T
Protein name
(NP_004983)		 p.Arg270*
Alternate systematic Name
(NM_001110792.1:)		 c.844C>T
Alternate Protein name
(NP_001104262)		 p.(Arg282*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296471G>A
Mutation type nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.808C > T p.Arg270* Female Rett syndrome-classical 7014 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.808C > T p.Arg270* Female Rett syndrome-classical 7015 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
3 c.808C > T p.Arg270* Female Rett syndrome-classical 7016 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
4 c.808C > T p.Arg270* Female Rett syndrome-classical 7017 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