NM_000441.2:c.2174_2177dup

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HGVS Expressions

  • NG_008489.1:g.54504_54507dup
  • NM_000441.2:c.2174_2177dup
  • NP_000432.1:p.Leu727TyrfsTer28
  • NC_000007.14:g.107710138_107710141dup

Associated Genes

Solute Carrier Family 26, Member 4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1421964916

Clinvar

851431

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600791.3United Arab Emirates1Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductElsayed O and Al-Shamsi A. 2022 Subject with compound heterozygous mutat...
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Contributors

  • Sami Bizzari: 04.10.2023

Edit History

  • Sami Bizzari: 19.10.2023
  • Sami Bizzari: 04.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.