NM_016239.4:c.5886C>A

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HGVS Expressions

  • NG_011634.2:g.39111C>A
  • NM_016239.4:c.5886C>A
  • NP_057323.3:p.Tyr1962Ter
  • NC_000017.11:g.18142816C>A

Associated Genes

Myosin XVA
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2502899

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.5Egypt2Likely PathogenicDeafness, Autosomal Recessive 3Ali et al. 2024 Patient from 'family 1' in the publicati...
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Contributors

  • Asha Deepthi: 22.08.2024

Edit History

  • Asha Deepthi: 22.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.