Variant information


Systematic Name
(NM_004992.3:)		 c.689_756del68
Protein name
(NP_004983)		 p.Pro230fs
Alternate systematic Name
(NM_001110792.1:)		 c.725_792del68
Alternate Protein name
(NP_001104262)		 p.(Pro242Glnfs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296523_153296590del68
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.689_756del68 p.Pro230fs Female Not Known 4478 :Das, S., Dempsey, M. U. Chicago:: View details