Variant information
Systematic Name (NM_004992.3:) |
c.91delG |
---|---|
Protein name (NP_004983) |
p.Val31* |
Alternate systematic Name (NM_001110792.1:) |
c.127delG |
Alternate Protein name (NP_001104262) |
p.(Val43*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297944delC |
Mutation type | Frameshift insertion or 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.91delG | p.Val31* | Female | Rett syndrome-Classical | 2365 | :Cardiff, UK:: | View details |