Variant information
Systematic Name (NM_004992.3:) |
c.[1104C>T; 1107_1327del221] |
---|---|
Protein name (NP_004983) |
p.[His368His;His370fs] |
Alternate systematic Name (NM_001110792.1:) |
c.[1140C>T;1143_1363del221] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296175G>A;153295952_153296172del221] |
Mutation type | Silent, frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1104C>T; 1107_1327del221] | p.[His368His;His370fs] | Female | Rett syndrome-Atypical | 423 | ::: | View details |