Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-3_383del9 p.Asn126Lysfs*11 Male Not Rett synd. 3827 Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypozia and reduced neuronal dentritic structure:Schule, B., Armstrong, D.D., Vogel, H., Oviedo, A., Francke, U.:Clinical Genetics: 18477000 View details