Tunis-Bizerte NM_000558.5:c.389T>C

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HGVS Expressions

  • NG_059186.1:g.5721T>C
  • NM_000558.5:c.389T>C
  • NP_000549.1:p.Leu130Pro

Associated Genes

Hemoglobin - Alpha Locus 1
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Genomic Location

chr16:177371

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

35993655

Clinvar

15865

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.2.1Tunisia1PathogenicAlpha-ThalassemiaDarbellay et al. 1995 Propositus
604131.2.2Tunisia1PathogenicAlpha-ThalassemiaDarbellay et al. 1995 Sister of 604131.2.1
604131.2.3Tunisia2PathogenicAlpha-ThalassemiaDarbellay et al. 1995 Mother of 604131.2.1
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Contributors

  • Sayeeda Hana: 23.11.2020

Edit History

  • Sayeeda Hana: 24.11.2020
  • Sayeeda Hana: 23.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.