NM_194248.3:c.5292-2A>C

HGVS Expressions

  • NG_009937.1:g.101760A>C
  • NM_194248.3:c.5292-2A>C
  • NP_919224.1:p.?
  • NC_000002.12:g.26461939T>G

Associated Genes

Otoferlin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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