NM_194248.2:c.4491T>A

HGVS Expressions

  • NG_009937.1:g.96976T>A
  • NM_194248.2:c.4491T>A
  • NP_919224.1:p.Tyr1497Ter

Associated Genes

Otoferlin
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Genomic Location

chr2:26466723

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

6133

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