Variant information

Systematic Name
c.[584_624del41insTT; 638delTinsCA]
Protein name
p.[Gly195_Gln208delinsVal; Leu213Profs*23]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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