Variant information


Systematic Name
(NM_004992.3:)		 c.1176G>A
Protein name
(NP_004983)		 p.Glu392Glu
Alternate systematic Name
(NM_001110792.1:)		 c.1212G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296103C>T
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1176G>A p.Glu392Glu Female Rett syndrome-Classical 1218 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 View details