Variant information


Systematic Name
(NM_004992.3:)		 c.864dupG
Protein name
(NP_004983)		 p.Lys289fs
Alternate systematic Name
(NM_001110792.1:)		 c.900dupG
Alternate Protein name
(NP_001104262)		 p.(Lys301Glufs*42)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296415dupC
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.864dupG p.Lys289fs Female Not Known 1799 :Friez, Michael:: View details