Variant information


Systematic Name c.[602C>T(;) 1157_1197del41]
Protein name p.[Ala201Val(;) Leu386fs]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome:Lee, E.Y., Chung, H-.J., Ki, C.-S., Yoo, J.-H., Choi, J.R.:Annals of Clinical & Laboratory Science: 21325263

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4805 A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome:Lee, E.Y., Chung, H-.J., Ki, C.-S., Yoo, J.-H., Choi, J.R.:Annals of Clinical & Laboratory Science: 21325263