Variant information
Systematic Name (NM_004992.3:) |
c.874_875insA |
---|---|
Protein name (NP_004983) |
p.Ser292fs |
Alternate systematic Name (NM_001110792.1:) |
c.910_911insA |
Alternate Protein name (NP_001104262) |
p.(Ser304Tyrfs*39) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296404_153296405insT |
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.874_875insA | p.Ser292fs | Female | Rett syndrome-classical | 3008 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |