NM_001039141.3:c.3133C>T

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  2. NM_001039141.3:c.3133C>T

HGVS Expressions

  • NG_012857.1:g.33702C>T
  • NM_001039141.3:c.3133C>T
  • NP_001034230.1:p.Arg1045Cys
  • NC_000022.11:g.37725689C>T

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

145115226

Clinvar

1300330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609823.2United Arab Emirates2Likely PathogenicDeafness, 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.