Variant information


Systematic Name
(NM_004992.3:)		 c.863_881del19
Protein name
(NP_004983)		 p.Val288fs
Alternate systematic Name
(NM_001110792.1:)		 c.899_917del19
Alternate Protein name
(NP_001104262)		 p.(Val300Aspfs*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296398_153296416del19
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.863_881del19 p.Val288fs Female Rett syndrome-classical 6629 ::: View details