NM_016239.4:c.6347del

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HGVS Expressions

  • NG_011634.2:g.42240del
  • NM_016239.4:c.6347del
  • NP_057323.3:p.Lys2116ArgfsTer137
  • NC_000017.11:g.18145945del

Associated Genes

Myosin XVA
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.8.1Yemen2Likely PathogenicDeafness, Autosomal Recessive 3Asaad et al. 2023 Proband
600316.8.2Yemen2Likely PathogenicDeafness, Autosomal Recessive 3Asaad et al. 2023 Sister of 600316.8.1
600316.8.G.1Yemen3Asaad et al. 2023 Father, mother and brother of 600316.8.1
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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 2024. All rights reserved.
© CAGS 2024. All rights reserved.