Variant information


Systematic Name c.1142_1227del86
Protein name p.Pro381fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 3,4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result found in two sons with atypical RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 4219 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342
2 c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 4220 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342
3 c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4221 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342