Variant information
Systematic Name (NM_004992.3:) |
c.1235_1260del26 |
---|---|
Protein name (NP_004983) |
p.Val412fs |
Alternate systematic Name (NM_001110792.1:) |
c.1271_1296del26 |
Alternate Protein name (NP_001104262) |
p.(Val424Glyfs*15) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296019_153296044del26 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1235_1260del26 | p.Val412fs | Female | Rett syndrome-Not certain | 1 | :Bunyan, D.:: | View details |