NM_194248.3:c.5159C>T

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HGVS Expressions

  • NG_009937.1:g.100183C>T
  • NM_194248.3:c.5159C>T
  • NP_919224.1:p.Thr1720Met
  • NC_000002.12:g.26463516G>A

Associated Genes

Otoferlin
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

375712326

Clinvar

227757

Epidemiology in the Arab World

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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.