Variant information
Systematic Name (NM_004992.3:) |
c.-99+2_30delTG |
---|---|
Protein name (NP_004983) |
intronic variant |
Alternate systematic Name (NM_001110792.1:) |
c.62+2_66delTG |
Alternate Protein name (NP_001104262) |
intronic variant |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153298005_153363059delCA |
Mutation type | Frameshift deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-99+2_30delTG | intronic variant | Male | Rett syndrome-male variant | 5327 | ::: | View details |