Variant information


Systematic Name
(NM_004992.3:)		 c.1161_1205del45insA
Protein name
(NP_004983)		 p.Pro389*
Alternate systematic Name
(NM_001110792.1:)		 c.1197_1241delinsA
Alternate Protein name
(NP_001104262)		 p.(Pro401*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296074_153296118delinsT
Mutation type Frameshift combined insertion and 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.1161_1205del45insA p.Pro389* Female Rett syndrome-Not certain 1856 :Bunyan, D.:: View details