Variant information


Systematic Name
(NM_004992.3:)		 c.1200dupC
Protein name
(NP_004983)		 p.Ser401fs
Alternate systematic Name
(NM_001110792.1:)		 c.1236dupC
Alternate Protein name
(NP_001104262)		 p.(Ser413Glnfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296079dupG
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.1200dupC p.Ser401fs Female Rett syndrome-Classical 1429 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 View details