Variant information


Systematic Name
(NM_004992.3:)		 c.1096_1201del106
Protein name
(NP_004983)		 p.His366fs
Alternate systematic Name
(NM_001110792.1:)		 c.1132_1237del106
Alternate Protein name
(NP_001104262)		 p.(His378Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296078_153296183del106
Mutation type Frameshift insertion or 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.1096_1201del106 p.His366fs Unknown Rett syndrome-Not certain 1368 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details