NC_000003.12:g.150649557_15065992inv

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HGVS Expressions

  • NC_000003.12:g.150649557_15065992inv

Associated Genes

Clarin 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Inversion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276902.G.2United Arab Emirates4Likely PathogenicUsher Syndrome, Type IIIAElsayed O and Al-Shamsi A. 2022 Two individuals harboring a large invers...
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Contributors

  • Sami Bizzari: 16.11.2023

Edit History

  • Sami Bizzari: 30.11.2023
  • Sami Bizzari: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.