NM_000518.5:c.93-1G>A

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HGVS Expressions

  • NG_059281.1:g.5272G>A
  • NM_000518.5:c.93-1G>A

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226800

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33943001

Clinvar

15446

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.8Egypt1NAPathogenicBeta-ThalassemiaDeidda et al. 1990
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Contributors

  • Asha Deepthi: 20.12.2020

Edit History

  • Asha Deepthi: 20.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.