Variant information


Systematic Name
(NM_004992.3:)		 c.474G>A
Protein name
(NP_004983)		 p.Thr158Thr
Alternate systematic Name
(NM_001110792.1:)		 c.510G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296805C>T
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.474G>A p.Thr158Thr Female Rett syndrome-Not certain 15 :Bunyan, D.:: View details
2 c.474G>A p.Thr158Thr Female Not Known 2160 :Cardiff, UK:: View details
3 c.474G>A p.Thr158Thr Male Not Rett synd. 2161 :Cardiff, UK:: View details