NM_016239.3:c.3791C>A

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HGVS Expressions

  • NG_011634.1:g.22676C>A
  • NM_016239.3:c.3791C>A
  • NP_057323.3:p.Pro1264Gln
  • NC_000017.11:g.18126381C>A

Associated Genes

Myosin XVA
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CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.3United Arab Emirates2Uncertain SignificanceDeafness, Autosomal Recessive 3Saleh et al. 2021
600316.4United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 3Elsayed O and Al-Shamsi A. 2022
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Contributors

  • Pratibha Nair: 02.02.2022

Edit History

  • Sami Bizzari: 19.10.2023
  • Pratibha Nair: 02.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.