NM_194248.2:c.709C>T

HGVS Expressions

  • NG_009937.1:g.61398C>T
  • NM_194248.2:c.709C>T
  • NP_919224.1:p.Arg237Ter
  • NC_000002.12:g.26502301G>A

Associated Genes

Otoferlin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

65814

Epidemiology in the Arab World

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