Variant information


Systematic Name
(NM_004992.3:)		 c.598A>T
Protein name
(NP_004983)		 p.Lys200*
Alternate systematic Name
(NM_001110792.1:)		 c.634A>T
Alternate Protein name
(NP_001104262)		 p.(Lys212*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296681T>A
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.598A>T p.Lys200* Female Rett syndrome-Classical 430 ::: View details
2 c.598A>T p.Lys200* Female Rett syndrome-Not certain 1862 :Bunyan, D.:: View details