Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift combined insertion and 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_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* Female Not Rett synd. 5301 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973 View details
2 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* Female Rett syndrome-atypical 4821 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 View details