Variant information


Systematic Name
(NM_004992.3:)		 c.881G>C
Protein name
(NP_004983)		 p.Arg294Pro
Alternate systematic Name
(NM_001110792.1:)		 c.917G>C
Alternate Protein name
(NP_001104262)		 p.(Arg306Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296398C>G
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.881G>C p.Arg294Pro Female Rett syndrome-Not certain 1903 ::: View details
2 c.881G>C p.Arg294Pro Male Not Rett synd. 1904 ::: View details