Variant information
Systematic Name (NM_004992.3:) |
uncertain |
---|---|
Protein name (NP_004983) |
p.Ile314Ile |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | Silent |
Domain | C-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | uncertain | p.Ile314Ile | Female | Rett syndrome-Not certain | 9 | :Bunyan, D.:: | View details |