Variant information


Systematic Name
(NM_004992.3:)		 c.1132_1207del77
Protein name
(NP_004983)		 p.Ala378Leufs*6
Alternate systematic Name
(NM_001110792.1:)		 c.1168_1243del
Alternate Protein name
(NP_001104262)		 p.(Ala390Leufs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296072_153296147del
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.1132_1207del77 p.Ala378Leufs*6 Female Rett syndrome-classical 7029 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