Variant information

Systematic Name
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]
Protein name
p.[Lys331del; Arg344fs]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type In-frame insertion or deletion, 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.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] Female Not Known 2002 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert:: View details