Variant information


Systematic Name
(NM_004992.3:)		 c.854dupA
Protein name
(NP_004983)		 p.Lys286fs
Alternate systematic Name
(NM_001110792.1:)		 c.890dupA
Alternate Protein name
(NP_001104262)		 p.(Lys298Glufs*45)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296425dupT
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.854dupA p.Lys286fs Female Not Known 1758 :Friez, Michael:: View details