NM_206933.2:c.11907del

HGVS Expressions

  • NG_009497.2:g.700260A>T
  • NM_206933.2:c.11907del
  • NP_996816.2:p.Ala3970LeufsTer14
  • NC_000001.11:g.215728189del

Associated Genes

USH2A gene
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.1Lebanon2PathogenicUsher Syndrome, Type IIAReddy et al. 2014 The patient had 2 similarly affected bro...
© CAGS 2024. All rights reserved.