NM_022124.6:c.7790T>A

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HGVS Expressions

  • NG_008835.1:g.411392T>A
  • NM_022124.6:c.7790T>A
  • NP_071407.4:p.Leu2597His
  • NC_000010.11:g.71803338T>A

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1433166571

Clinvar

1474169

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601386.1Lebanon2PathogenicDeafness, Autosomal Recessive 12Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 27.10.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 27.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.