Variant information
Systematic Name (NM_004992.3:) |
c.[710G>T(;)763C>T] |
---|---|
Protein name (NP_004983) |
p.[Gly237Val(;)Arg255*] |
Alternate systematic Name (NM_001110792.1:) |
c.[746G>T;799C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296569C>A;153296516G>A] |
Mutation type | missense, nonsense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[710G>T(;)763C>T] | p.[Gly237Val(;)Arg255*] | Female | Rett syndrome-Classical | 2460 | ::: | View details |