Variant information


Systematic Name
(NM_004992.3:)		 c.473C > T
Protein name
(NP_004983)		 p.Thr158Met
Alternate systematic Name
(NM_001110792.1:)		 c.509C>T
Alternate Protein name
(NP_001104262)		 p.(Thr170Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296806G>A
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.473C > T p.Thr158Met Female Rett syndrome-classical 7010 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.473C > T p.Thr158Met Female Rett syndrome-classical 7011 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.473C > T p.Thr158Met Female Rett syndrome-classical 7012 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.473C > T p.Thr158Met Female Rett syndrome-classical 7013 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