NM_022124.6:c.7823G>A

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HGVS Expressions

  • NG_008835.1:g.411425G>A
  • NM_022124.6:c.7823G>A
  • NP_071407.4:p.Arg2608His
  • NC_000010.11:g.71803371G>A

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

202052174

Clinvar

46040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601386.3Egypt1Uncertain SignificanceDeafness, Autosomal Recessive 12Ali et al. 2024 Patient from 'family 7' in the publicati...
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Contributors

  • Asha Deepthi: 23.08.2024

Edit History

  • Asha Deepthi: 23.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.