Variant information


Systematic Name c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]
Protein name p.[Lys331del; Arg344fs]
Mutation type In-frame insertion or deletion, 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 Unaffected father carrier of p.R354L, neither parent has other variations
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Known
Reference Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2002 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::