Variant information



Systematic Name [c.897C>T (+) c.(378_1461)_(378_1461)del]
Protein name [p.Thr299Thr (+) p.(Asn126+Ser486)fs]
Mutation type Frameshift insertion or deletion
Domain Not known
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 [c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Classical 2088