Variant information


Systematic Name
(NM_004992.3:)		 c.1239C>T
Protein name
(NP_004983)		 p.Cys413Cys
Alternate systematic Name
(NM_001110792.1:)		 c.1275C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296040G>A
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.1239C>T p.Cys413Cys Female Not Known 2061 ::: View details
2 c.1239C>T p.Cys413Cys Male Not Rett synd. 2062 ::: View details