Variant information
Systematic Name (NM_004992.3:) |
c.961A>G |
---|---|
Protein name (NP_004983) |
p.Lys321Glu |
Alternate systematic Name (NM_001110792.1:) |
c.997A>G |
Alternate Protein name (NP_001104262) |
p.(Lys333Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296318T>C |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.961A>G | p.Lys321Glu | Female | Rett syndrome-classical | 6616 | ::: | View details |