Variant information
Systematic Name (NM_004992.3:) |
c.816_832del17 |
---|---|
Protein name (NP_004983) |
p.Gly273fs |
Alternate systematic Name (NM_001110792.1:) |
c.852_868del17 |
Alternate Protein name (NP_001104262) |
p.(Gly285Argfs*52) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296447_153296463del17 |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.816_832del17 | p.Gly273fs | Female | Rett syndrome-Classical | 2609 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |