Variant information


Systematic Name
(NM_004992.3:)		 c.871_1044del
Protein name
(NP_004983)		 p.Ile293_Ser350del
Alternate systematic Name
(NM_001110792.1:)		 c.907_1080del
Alternate Protein name
(NP_001104262)		 p.(Ile305_Ser362del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296235_153296408del
Mutation type in-frame insertion or deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.871_1044del p.Ile293_Ser350del Female Rett syndrome-atypical 4879 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 View details