NM_022124.6:c.6614C>T

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HGVS Expressions

  • NG_008835.1:g.401596C>T
  • NM_022124.6:c.6614C>T
  • NP_071407.4:p.Pro2205Leu
  • NC_000010.11:g.71793542C>T

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397517349

Clinvar

46014

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601386.4United Arab Emirates2Likely PathogenicDeafness, 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.