Variant information


Systematic Name
(NM_004992.3:)		 c.483delG
Protein name
(NP_004983)		 p.Arg162fs
Alternate systematic Name
(NM_001110792.1:)		 c.519delG
Alternate Protein name
(NP_001104262)		 p.(Arg174Glufs*48)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296796delC
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.483delG p.Arg162fs Female Rett syndrome-Not certain 1888 ::: View details