Variant information


Systematic Name
(NM_004992.3:)		 c.900_908del
Protein name
(NP_004983)		 p.Leu301_Ile303del
Alternate systematic Name
(NM_001110792.1:)		 c.936_944del
Alternate Protein name
(NP_001104262)		 p.(Leu313_Ile315del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296371_153296379del
Mutation type in-frame insertion or deletion
Domain TRD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.900_908del p.Leu301_Ile303del Female Rett syndrome-forme fruste 4386 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details