Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] 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 View details