Variant information
Systematic Name (NM_004992.3:) |
c.792_793delTC |
---|---|
Protein name (NP_004983) |
p.Pro265fs |
Alternate systematic Name (NM_001110792.1:) |
c.828_829delTC |
Alternate Protein name (NP_001104262) |
p.(Pro277Glnfs*65) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296486_153296487delGA |
Mutation type | Frameshift insertion or deletion |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.792_793delTC | p.Pro265fs | Female | Rett syndrome-Not certain | 1895 | ::: | View details |