Variant information


Systematic Name
(NM_004992.3:)		 c.679C>T
Protein name
(NP_004983)		 p.Gln227*
Alternate systematic Name
(NM_001110792.1:)		 c.715C>T
Alternate Protein name
(NP_001104262)		 p.(Gln239*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296600G>A
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.679C>T p.Gln227* Female Rett syndrome-classical 6584 ::: View details