Variant information


Systematic Name
(NM_004992.3:)		 c.635_655del21
Protein name
(NP_004983)		 p.Val212_Lys219delinsGlu
Alternate systematic Name
(NM_001110792.1:)		 c.671_691del21
Alternate Protein name
(NP_001104262)		 p.(Val224_Lys231delinsGlu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296624_153296644del21
Mutation type In-frame insertion or deletion
Domain TRD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.635_655del21 p.Val212_Lys219delinsGlu Female Rett syndrome-Not certain 1248 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 View details