Variant information
Systematic Name (NM_004992.3:) |
c.898_904del7 |
---|---|
Protein name (NP_004983) |
p.Val300fs |
Alternate systematic Name (NM_001110792.1:) |
c.934_940del7 |
Alternate Protein name (NP_001104262) |
p.(Val312Profs*19) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296375_153296381del7 |
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.898_904del7 | p.Val300fs | Female | Rett syndrome-Not certain | 1620 | :Bunyan, D.:: | View details |