NM_000518.5:c.316-8T>G

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HGVS Expressions

  • NG_059281.1:g.6338T>G
  • NM_000518.5:c.316-8T>G

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5225734

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

34793594

Clinvar

15453

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.3Algeria2NAPathogenicBeta-ThalassemiaBeldjord et al. 1988
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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.