NM_001039141.3:c.2758C>T

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  2. NM_001039141.3:c.2758C>T

HGVS Expressions

  • NG_012857.1:g.33327C>T
  • NM_001039141.3:c.2758C>T
  • NP_001034230.1:p.Arg920Ter
  • NC_000022.11:g.37725314C>T

Associated Genes

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

Likely Pathogenic

Variant Type

Substitution

dbSNP

1328461856

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609823.GUnited Arab Emirates4Likely PathogenicDeafness, Autosomal Recessive 28Elsayed O and Al-Shamsi A. 2022 Two individuals reported with no other i...
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Contributors

  • Sami Bizzari: 05.10.2023

Edit History

  • Sami Bizzari: 29.08.2024
  • Sami Bizzari: 15.11.2023
  • Sami Bizzari: 05.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.