Variant information
Systematic Name (NM_004992.3:) |
c.1159_1210del52 |
---|---|
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1195_1246del52 |
Alternate Protein name (NP_001104262) |
p.(Pro399Serfs*5) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296069_153296120del52 |
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.1159_1210del52 | p.Pro387fs | Female | Not Rett synd. | 1153 | Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 | View details |