Variant information


Systematic Name
(NM_004992.3:)		 c.749G>A
Protein name
(NP_004983)		 p.Arg250His
Alternate systematic Name
(NM_001110792.1:)		 c.785G>A
Alternate Protein name
(NP_001104262)		 p.(Arg262His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296530C>T
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.749G>A p.Arg250His Female Rett syndrome-Not certain 1852 :Bunyan, D.:: View details
2 c.749G>A p.Arg250His Male Not Rett synd. 1853 :Bunyan, D.:: View details