NM_001378457.1:c.796C>T

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HGVS Expressions

  • NG_017155.1:g.82054C>T
  • NM_001378457.1:c.796C>T
  • NP_001365386.1:p.Arg266Trp
  • NC_000015.10:g.51545717G>A

Associated Genes

DMX-Like 2
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

774281287

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604487.1United 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: 03.09.2024
  • Asha Deepthi: 02.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.