NM_194248.3:c.5292-2A>C

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HGVS Expressions

  • NG_009937.1:g.101760A>C
  • NM_194248.3:c.5292-2A>C
  • NP_919224.1:p.?
  • NC_000002.12:g.26461939T>G

Associated Genes

Otoferlin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601071.6.1Yemen2Likely PathogenicDeafness, Autosomal Recessive 9Asaad et al. 2023 Proband
601071.6.2Yemen2Likely PathogenicDeafness, Autosomal Recessive 9Asaad et al. 2023 Sister of 601071.6.1
601071.6.3Yemen1Asaad et al. 2023 Sister of 601071.6.1
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Contributors

  • Sayeeda Hana: 06.09.2024

Edit History

  • Sayeeda Hana: 07.09.2024
  • Sayeeda Hana: 06.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.