NM_016239.4:c.5925G>A

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HGVS Expressions

  • NG_011634.2:g.39875G>A
  • NM_016239.4:c.5925G>A
  • NP_057323.3:p.Trp1975Ter
  • NC_000017.11:g.18143580G>A

Associated Genes

Myosin XVA
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Clinvar Clinical Significance

Benign, Likely Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

375290498

Clinvar

203364

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.7United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 3Tlili et al. 2024
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Contributors

  • Asha Deepthi: 29.08.2024

Edit History

  • Asha Deepthi: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.