Variant information


Systematic Name
(NM_004992.3:)		 c.1164_1194del31
Protein name
(NP_004983)		 p.Pro391fs
Alternate systematic Name
(NM_001110792.1:)		 c.1200_1230del31
Alternate Protein name
(NP_001104262)		 p.(Pro403Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296085_153296115del31
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1164_1194del31 p.Pro391fs Female Rett syndrome-classical 4857 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