Variant information
Systematic Name (NM_004992.3:) |
c.302C>A |
---|---|
Protein name (NP_004983) |
p.Pro101His |
Alternate systematic Name (NM_001110792.1:) |
c.338C>A |
Alternate Protein name (NP_001104262) |
p.(Pro113His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297733G>T |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.302C>A | p.Pro101His | Female | Rett syndrome-Classical | 2167 | :Cardiff, UK:: | View details |