Variant information

Systematic Name
c.[1053_1054ins10; 1145_1199del55]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type in-frame combined insertion and 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.[1053_1054ins10; 1145_1199del55] p.Lys352fs Unknown Rett syndrome-Not certain 855 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 View details