Variant information
Systematic Name (NM_004992.3:) |
c.[584_624del41insTT; 638delTinsCA] |
---|---|
Protein name (NP_004983) |
p.[Gly195_Gln208delinsVal; Leu213Profs*23] |
Alternate systematic Name (NM_001110792.1:) |
c.[620_660delinsTT;674delinsCA] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296655_153296695delinsAA;153296641delinsTG] |
Mutation type | frameshift combined insertion and deletion |
Domain | inter-domain region, TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[584_624del41insTT; 638delTinsCA] | p.[Gly195_Gln208delinsVal; Leu213Profs*23] | Female | Rett syndrome-classical | 4933 | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 | View details |