Variant information


Systematic Name
(NM_004992.3:)		 c.834_939del106
Protein name
(NP_004983)		 p.Ala279fs
Alternate systematic Name
(NM_001110792.1:)		 c.870_975del106
Alternate Protein name
(NP_001104262)		 p.(Ala291Serfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296340_153296445del106
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.834_939del106 p.Ala279fs Female Not Known 4497 :Das, S., Dempsey, M. U. Chicago:: View details