Variant information


Systematic Name
(NM_004992.3:)		 c.[590C>T(;)674C>T]
Protein name
(NP_004983)		 p.[Thr197Met(;)Pro225Arg]
Alternate systematic Name
(NM_001110792.1:)		 c.[626C>T;710C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296689G>A;153296605G>A]
Mutation type Missense
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.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] Female Rett syndrome-Atypical 374 ::: View details