Variant information


Systematic Name
(NM_004992.3:)		 c.1148_1193del
Protein name
(NP_004983)		 p.Leu383Profs*11
Alternate systematic Name
(NM_001110792.1:)		 c.1184_1229del
Alternate Protein name
(NP_001104262)		 p.(Leu395Profs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296086_153296131del
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1148_1193del p.Leu383Profs*11 Female Rett syndrome-classical 7026 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