Variant information
Systematic Name (NM_004992.3:) |
c.*122delT |
---|---|
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*122delT |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295696delA |
Mutation type | 3'UTR variation |
Domain | 3'UTR |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.*122delT | 3'UTR variation | Female | Rett syndrome-Not certain | 1915 | ::: | View details |