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
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Phenotype-class Rett syndrome-Classical
Reference :::

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