NM_022124.6:c.1691A>G

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HGVS Expressions

  • NG_008835.1:g.285686A>G
  • NM_022124.6:c.1691A>G
  • NP_071407.4:p.Asp564Gly
  • NC_000010.11:g.71677632A>G

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

2537084

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601386.5United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 12Tlili et al. 2024
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Contributors

  • Asha Deepthi: 28.08.2024

Edit History

  • Asha Deepthi: 28.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.