Variant information


Systematic Name
(NM_004992.3:)		 c.1214_1230del17
Protein name
(NP_004983)		 p.Pro405fs
Alternate systematic Name
(NM_001110792.1:)		 c.1250_1266del17
Alternate Protein name
(NP_001104262)		 p.(Pro417Glnfs*25)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296049_153296065del17
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1214_1230del17 p.Pro405fs Female Not Known 4420 :Das, S., Dempsey, M. U. Chicago:: View details