Variant information


Systematic Name c.378-3_383del9
Protein name p.Asn126Lysfs*11
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA fibroblasts
Detection direct
Extent NK
Number of chromosomes checked
Carrier status checked Yes
Carrier result mother normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-Severe congenital encephalopathy
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.378-3_383del9 p.Asn126Lysfs*11 frameshift insertion or deletion MBD Mutation associated with disease 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