NM_194248.3:c.5566C>T

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HGVS Expressions

  • NG_009937.1:g.102701C>T
  • NM_194248.3:c.5566C>T
  • NP_919224.1:p.Arg1856Trp
  • NC_000002.12:g.26460998G>A

Associated Genes

Otoferlin
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

368155547

Clinvar

48263

Contributors

  • Sami Bizzari: 03.10.2023

Edit History

  • Sami Bizzari: 03.10.2023
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.