Variant information


Systematic Name
(NM_004992.3:)		 c.1173_1207del35
Protein name
(NP_004983)		 p.Glu392*
Alternate systematic Name
(NM_001110792.1:)		 c.1209_1243del35
Alternate Protein name
(NP_001104262)		 p.(Glu404*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296072_153296106del35
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.1173_1207del35 p.Glu392* Female Rett syndrome-classical 6645 ::: View details