Variant information


Systematic Name
(NM_004992.3:)		 c.807_*125del780
Protein name
(NP_004983)		 p.Arg270_Ser486delinsGln
Alternate systematic Name
(NM_001110792.1:)		 c.843_*125del780
Alternate Protein name
(NP_001104262)		 p.(Arg282_Ser498delinsGln)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295693_153296472del780
Mutation type In-frame insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.807_*125del780 p.Arg270_Ser486delinsGln Female Not Known 1722 :Friez, Michael:: View details