NM_000518.5:c.-50A>C

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  2. NM_000518.5:c.-50A>C

HGVS Expressions

  • NG_059281.1:g.5001A>C
  • NM_000518.5:c.-50A>C

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5227071

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

34305195

Clinvar

36292

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
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Contributors

  • Asha Deepthi: 15.11.2020

Edit History

  • Asha Deepthi: 15.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.