Variant information


Systematic Name
(NM_004992.3:)
c.574A>T
Protein name
(NP_004983)
p.Lys192*
Alternate systematic Name
(NM_001110792.1:)
c.610A>T
Alternate Protein name
(NP_001104262)
p.(Lys204*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296705T>A
Mutation type nonsense
Domain inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.574A>T p.Lys192* Female Rett syndrome-classical 4874 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