NM_194248.3:c.2374C>T

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HGVS Expressions

  • NG_009937.1:g.86251C>T
  • NM_194248.3:c.2374C>T
  • NP_919224.1:p.Arg792Trp
  • NC_000002.12:g.26477448G>A

Associated Genes

Otoferlin
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

148532589

Clinvar

164864

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601071.4United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 9Tlili et al. 2024
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Contributors

  • Asha Deepthi: 30.08.2024

Edit History

  • Asha Deepthi: 30.08.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.