Variant information


Systematic Name c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA
Protein name p.Pro389*
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA lymphocytes for XCI
Detection not stated
Extent not certain
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-ADHD, global developmental delay and OCD
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease 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
2 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* in-frame insertion or deletion C-term Mutation associated with disease 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