Variant information
Systematic Name (NM_004992.3:) |
c.881_902del22 |
---|---|
Protein name (NP_004983) |
p.Arg294fs |
Alternate systematic Name (NM_001110792.1:) |
c.917_938del22 |
Alternate Protein name (NP_001104262) |
p.(Arg306Profs*20) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296377_153296398del22 |
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.881_902del22 | p.Arg294fs | Female | Rett syndrome-not certain | 3605 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |