Variant information


Systematic Name
(NM_004992.3:)		 c.1115_1201del87
Protein name
(NP_004983)		 p.His372_Ser401delinsArg
Alternate systematic Name
(NM_001110792.1:)		 c.1151_1237del87
Alternate Protein name
(NP_001104262)		 p.(His384_Ser413delinsArg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296078_153296164del87
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1115_1201del87 p.His372_Ser401delinsArg Female Not Known 1777 :Friez, Michael:: View details