Variant information
Systematic Name (NM_004992.3:) |
c.1446C>T |
---|---|
Protein name (NP_004983) |
p.Thr482Thr |
Alternate systematic Name (NM_001110792.1:) |
c.1482C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295833G>A |
Mutation type | Silent |
Domain | C-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1446C>T | p.Thr482Thr | Female | Rett syndrome-Not certain | 1912 | ::: | View details |