NM_194248.2:c.709C>T

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HGVS Expressions

  • NG_009937.1:g.61398C>T
  • NM_194248.2:c.709C>T
  • NP_919224.1:p.Arg237Ter
  • NC_000002.12:g.26502301G>A

Associated Genes

Otoferlin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397515610

Clinvar

65814

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601071.G.3United Arab Emirates10Likely PathogenicDeafness, Autosomal Recessive 9Houseman et al. 2001 Family of five affected individuals
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Contributors

  • Pratibha Nair: 25.02.2019

Edit History

  • Pratibha Nair: 12.01.2023
  • Sami Bizzari: 19.12.2022
  • Sami Bizzari: 12.09.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 25.02.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.