Variant information
Systematic Name (NM_004992.3:) |
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] |
---|---|
Protein name (NP_004983) |
p.[Lys331del; Arg344fs] |
Alternate systematic Name (NM_001110792.1:) |
c.[1028_1030delAGA;1065delG;1097G>T;1203_1236del34] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296285_153296287delTCT;153296250delC;153296218C>A;153296079_153296112del34] |
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 |