NM_000518.5:c.-136C>G

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HGVS Expressions

  • NG_000007.3:g.70459C>G
  • NM_000518.5:c.-136C>G
  • NC_000011.10:g.5227157G>C

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

33994806

Clinvar

15465

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.1Lebanon20.01Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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Contributors

  • Asha Deepthi: 29.07.2024

Edit History

  • Asha Deepthi: 29.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.