Variant information
Systematic Name (NM_004992.3:) |
c.795C>G |
---|---|
Protein name (NP_004983) |
p.Pro265Pro |
Alternate systematic Name (NM_001110792.1:) |
c.831C>G |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296484G>C |
Mutation type | silent |
Domain | TRD-NLS |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.795C>G | p.Pro265Pro | Female | Rett syndrome-atypical | 4085 | :Khajuria, R.:: | View details |