Variant information


Systematic Name
(NM_004992.3:)		 c.[502C>T(;)750C>A]
Protein name
(NP_004983)		 p.[Arg168*(;)Arg250Arg]
Alternate systematic Name
(NM_001110792.1:)		 c.[538C>T;786C>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296777G>A;153296529G>T]
Mutation type Nonsense, silent
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[502C>T(;)750C>A] p.[Arg168*(;)Arg250Arg] Female Rett syndrome-Classical 2455 ::: View details