Al-Ain Abu Dhabi NM_000558.5:c.56G>A

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HGVS Expressions

  • NG_059186.1:g.5122G>A
  • NM_000558.5:c.56G>A
  • NP_000549.1:p.Gly19Asp
  • NC_000016.10:g.176772G>A

Associated Genes

Hemoglobin - Alpha Locus 1
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

35993097

Clinvar

15850

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.1.1United Arab Emirates1Uncertain SignificanceAlpha-ThalassemiaAbbes et al. 1992 Propositus
604131.1.2United Arab Emirates1Uncertain SignificanceAlpha-ThalassemiaAbbes et al. 1992 Father of 604131.1.1
604131.1.3United Arab Emirates1Uncertain SignificanceAlpha-ThalassemiaAbbes et al. 1992 Brother of 604131.1.1
604131.1.4United Arab Emirates1Uncertain SignificanceAlpha-ThalassemiaAbbes et al. 1992 Sister of 604131.1.1
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Contributors

  • Sayeeda Hana: 23.11.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 08.01.2021
  • Sayeeda Hana: 23.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.