Variant information


Systematic Name
(NM_004992.3:)		 c.669_686conAL078639.5:g.94544_94611
Protein name
(NP_004983)		 p.Lys223Asnfs*12
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift insertion or deletion
Domain TRD, TRD-NLS, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 Female Rett syndrome-not certain 4318 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 View details