Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.898_1099del202 p.Val300fs Female Rett syndrome-Classical 1202 Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737 View details