NM_000519.4:c.428C>T

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HGVS Expressions

  • NG_063112.2:g.15678C>T
  • NM_000519.4:c.428C>T
  • NP_000510.1:p.Ala143Val
  • NC_000011.10:g.5232980G>A

Associated Genes

Hemoglobin--Delta Locus
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

35848600

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
142000.1Lebanon1Uncertain SignificanceLederer et al. 2017 Proband (M1 in the publication) is of mi...
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Contributors

  • Asha Deepthi: 21.02.2021

Edit History

  • Sami Bizzari: 07.06.2021
  • Sami Bizzari: 01.06.2021
  • Asha Deepthi: 21.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.