Variant information
Systematic Name (NM_004992.3:) |
c.914A>C |
---|---|
Protein name (NP_004983) |
p.Lys305Thr |
Alternate systematic Name (NM_001110792.1:) |
c.950A>C |
Alternate Protein name (NP_001104262) |
p.(Lys317Thr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296365T>G |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.914A>C | p.Lys305Thr | Female | Rett syndrome-classical | 6617 | ::: | View details |