NM_000517.6:c.70G>T

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HGVS Expressions

  • NG_059271.1:g.5136G>T
  • NM_000517.6:c.70G>T
  • NP_000508.1:p.Glu24Ter
  • NC_000016.10:g.172982G>T

Associated Genes

Hemoglobin--Alpha Locus 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

281864819

Clinvar

15686

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.4.1Tunisia1PathogenicAlpha-ThalassemiaSiala et al. 2004 Proband
604131.4.2Tunisia1PathogenicAlpha-ThalassemiaSiala et al. 2004 Mother of 604131.4.1
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Contributors

  • Sayeeda Hana: 29.11.2020

Edit History

  • Pratibha Nair: 12.09.2022
  • Sayeeda Hana: 30.11.2020
  • Sayeeda Hana: 29.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.