NM_001079827.2:c.494C>A

HGVS Expressions

  • NM_001079827.2:c.494C>A
  • NP_001073296.1:p.Thr165Lys
  • NC_000004.12:g.17526877C>A

Associated Genes

Clarin 2
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

996040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
619174.G.1United Arab EmiratesNA0.00002Likely PathogenicDeafness, Autosomal Recessive 117Vona et al. 2021 Unknown number of patients
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