NM_000441.2:c.1265T>C

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HGVS Expressions

  • NG_008489.1:g.38770T>C
  • NM_000441.2:c.1265T>C
  • NP_000432.1:p.Val422Ala
  • NC_000007.14:g.107694404T>C

Associated Genes

Solute Carrier Family 26, Member 4
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

1057520369

Clinvar

378599

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605646.GUnited Arab Emirates1Chouchen et al. 2021 Heterozygous variants in at least 22 ind...
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Contributors

  • Sami Bizzari: 27.01.2022

Edit History

  • Pratibha Nair: 21.12.2022
  • Sami Bizzari: 27.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.