Variant information


Systematic Name
(NM_004992.3:)		 c.763_1383del621ins15
Protein name
(NP_004983)		 p.Arg255_Ile461delins5
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type in-frame combined insertion and deletion
Domain TRD, TRD-NLS, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.763_1383del621ins15 p.Arg255_Ile461delins5 Female Not Known 4481 :Das, S., Dempsey, M. U. Chicago:: View details