NM_000518.5:c.92+5G>A

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  2. NM_000518.5:c.92+5G>A

HGVS Expressions

  • NG_059281.1:g.5147G>A
  • NM_000518.5:c.92+5G>A

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226925

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33915217

Clinvar

15449

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.2Algeria2NAPathogenicBeta-ThalassemiaLapoumeroulie et al. 1986
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Contributors

  • Asha Deepthi: 10.12.2020

Edit History

  • Asha Deepthi: 10.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.