Variant information


Systematic Name
(NM_004992.3:)
c.1384-1385del GT
Protein name
(NP_004983)
p.Val462Phefs*24
Alternate systematic Name
(NM_001110792.1:)
c.1420_1421delGT
Alternate Protein name
(NP_001104262)
p.(Val474Phefs*24)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295894_153295895delAC
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.1384-1385del GT p.Val462Phefs*24 Female Rett syndrome-classical 7022 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