NM_000518.5:c.-78A>C

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  2. NM_000518.5:c.-78A>C

HGVS Expressions

  • NG_059281.1:g.4973A>C
  • NM_000518.5:c.-78A>C

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5227099

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

33931746

Clinvar

15470

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.18Iraq1PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 12' in the publicat...
613985.G.24.2Iraq10.03Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 26 Iraqi patients...
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Contributors

  • Asha Deepthi: 27.12.2020

Edit History

  • Asha Deepthi: 30.07.2024
  • Asha Deepthi: 27.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.