Variant information


Systematic Name
(NM_004992.3:)		 c.[819G>T(;)1161C>T]
Protein name
(NP_004983)		 p.[Gly273Gly(;)Pro387Pro]
Alternate systematic Name
(NM_001110792.1:)		 c.[855G>T;1197C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296460C>A;153296118G>A]
Mutation type Silent
Domain TRD, C-term
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] Female Rett syndrome-Atypical 441 ::: View details