NM_000518.5:c.92+2T>C

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HGVS Expressions

  • NG_059281.1:g.5144T>C
  • NM_000518.5:c.92+2T>C

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226928

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33956879

Clinvar

36334

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.4AlgeriaNAPathogenicBeta-ThalassemiaBouhass et al. 1990 Mutations identified in seven patients w...
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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.