Variant information


Systematic Name
(NM_004992.3:)		 c.1180_1181insT
Protein name
(NP_004983)		 p.Glu394Valfs*11
Alternate systematic Name
(NM_001110792.1:)		 c.1216_1217insT
Alternate Protein name
(NP_001104262)		 p.(Glu406Valfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296098_153296099insA
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.1180_1181insT p.Glu394Valfs*11 Female Rett syndrome-classical 5110 ::: View details