Variant information
Systematic Name (NM_004992.3:) |
c.869_880delinsCACA |
---|---|
Protein name (NP_004983) |
p.Glu290Alafs*38 |
Alternate systematic Name (NM_001110792.1:) |
c.905_916delinsCACA |
Alternate Protein name (NP_001104262) |
p.(Glu302Alafs*38) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296399_153296410delinsTGTG |
Mutation type | frameshift combined insertion and deletion |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.869_880delinsCACA | p.Glu290Alafs*38 | Female | Rett syndrome-classical | 5060 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |