NM_206933.4:c.9860_9873del

  1. Home
  2. NM_206933.4:c.9860_9873del

HGVS Expressions

  • NG_009497.2:g.629444_629457del
  • NM_206933.4:c.9860_9873del
  • NP_996816.3:p.His3287ProfsTer54
  • NC_000001.11:g.215798993_215799006del

Associated Genes

USH2A gene
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1388040238

Clinvar

438035

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.G.2United Arab Emirates4Likely PathogenicUsher Syndrome, Type IIAElsayed O and Al-Shamsi A. 2022 Two individuals with no other informatio...
Download Table

Contributors

  • Sami Bizzari: 05.10.2023

Edit History

  • Sami Bizzari: 15.11.2023
  • Sami Bizzari: 05.10.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.