Variant information


Systematic Name
(NM_004992.3:)		 c.1372C>T
Protein name
(NP_004983)		 p.Arg458Cys
Alternate systematic Name
(NM_001110792.1:)		 c.1408C>T
Alternate Protein name
(NP_001104262)		 p.(Arg470Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295907G>A
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1372C>T p.Arg458Cys Female Not Known 2143 :Cardiff, UK:: View details
2 c.1372C>T p.Arg458Cys Male Not Rett synd. 2144 :Cardiff, UK:: View details