NM_000441.2:c.1614+1G>C

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HGVS Expressions

  • NG_008489.1:g.42478G>C
  • NM_000441.2:c.1614+1G>C
  • NP_000432.1:p.?
  • NC_000007.14:g.107698112G>C

Associated Genes

Solute Carrier Family 26, Member 4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

111033312

Clinvar

179170

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600791.8.1Saudi Arabia1PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductAlmontashiri et al. 2018 Proband from "family F-20" in the public...
600791.8.2Saudi Arabia1PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductAlmontashiri et al. 2018 Brother of 600791.8.1
600791.8.4Saudi Arabia1Almontashiri et al. 2018 Mother of 600791.8.1
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Contributors

  • Asha Deepthi: 10.06.2025

Edit History

  • Asha Deepthi: 10.06.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.