NM_001350933.2:c.583-2379_583-2129del

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HGVS Expressions

  • NM_001350933.2:c.583-2379_583-2129del
  • NP_001337862.1:p.?
  • NC_000010.11:g.73337654_73337904del

Associated Genes

Cadherin 23
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601067.3United Arab Emirates2Likely PathogenicUsher Syndrome, Type IDElsayed O and Al-Shamsi A. 2022 One patient exhibiting a large deletion
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Contributors

  • Sami Bizzari: 16.11.2023

Edit History

  • Sami Bizzari: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.