NM_001039141.3:c.3068C>T

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HGVS Expressions

  • NG_012857.1:g.33637C>T
  • NM_001039141.3:c.3068C>T
  • NP_001034230.1:p.Ala1023Val
  • NC_000022.11:g.37725624C>T

Associated Genes

TRIO- and F-Actin-Binding Protein
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

201681832

Clinvar

198446

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609823.3United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 28Tlili 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.