NM_001292063.2:c.965C>T

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HGVS Expressions

  • NG_033191.2:g.15912C>T
  • NM_001292063.2:c.965C>T
  • NP_001278992.1:p.Pro322Leu
  • NC_000011.10:g.17558284C>T

Associated Genes

Otogelin
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1458065529

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604487.2United Arab Emirates1Uncertain SignificanceTlili et al. 2024 Patient has heterozygous variants in OTO...
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Contributors

  • Asha Deepthi: 02.09.2024

Edit History

  • Asha Deepthi: 04.09.2024
  • Asha Deepthi: 02.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.