Variant information
Systematic Name (NM_004992.3:) |
c.651_652delTG |
---|---|
Protein name (NP_004983) |
p.Gly218fs |
Alternate systematic Name (NM_001110792.1:) |
c.687_688delTG |
Alternate Protein name (NP_001104262) |
p.(Gly230Glufs*17) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296627_153296628delCA |
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.651_652delTG | p.Gly218fs | Female | Not Known | 1774 | :Friez, Michael:: | View details |
2 | c.651_652delTG | p.Gly218fs | Female | Rett syndrome-not certain | 2542 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 | View details |