Variant information


Systematic Name
(NM_004992.3:)		 c.1160_1200del41insAGGGGTGG
Protein name
(NP_004983)		 p.Pro387_Thr400delinsGlnGlyTrp
Alternate systematic Name
(NM_001110792.1:)		 c.1196_1236delinsAGGGGTGG
Alternate Protein name
(NP_001104262)		 p.(Pro399_Thr412delinsGlnGlyTrp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296079_153296119delinsCCACCCCT
Mutation type in-frame combined insertion and deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp Female Rett syndrome-classical 4854 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