Variant information


Systematic Name
(NM_004992.3:)		 c.1117_1203del87
Protein name
(NP_004983)		 p.Ser373_Ser401del
Alternate systematic Name
(NM_001110792.1:)		 c.1153_1239del87
Alternate Protein name
(NP_001104262)		 p.(Ser385_Ser413del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296076_153296162del87
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1117_1203del87 p.Ser373_Ser401del Female Rett syndrome-atypical 4852 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 View details