NM_000518.5:c.-29G>A

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HGVS Expressions

  • NG_000007.3:g.70566G>A
  • NM_000518.5:c.-29G>A
  • NP_000509.1:p.?
  • NC_000011.10:g.5227050C>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

34704828

Clinvar

393702

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.2Iraq10.03Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 26 Iraqi patients...
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Contributors

  • Asha Deepthi: 30.07.2024

Edit History

  • Asha Deepthi: 30.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.