Variant information


Systematic Name c.1145_1194del50
Protein name p.Leu382fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood or fibroblasts
Detection direct
Extent exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1145_1194del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 914 :::
2 c.1145_1194del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3358 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756