Variant information


Systematic Name
(NM_004992.3:)		 c.760A>T
Protein name
(NP_004983)		 p.Lys254*
Alternate systematic Name
(NM_001110792.1:)		 c.796A>T
Alternate Protein name
(NP_001104262)		 p.(Lys266*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296519T>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.760A>T p.Lys254* Female Not Known 1790 :Friez, Michael:: View details