NG_059281.1:g.4962G>C

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HGVS Expressions

  • NG_059281.1:g.4962G>C
  • NG_059281.1:g.4962G>C
  • NC_000011.10:g.5227110C>G

Associated Genes

Hemoglobin - Beta Locus
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1245744370

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.9.1Lebanon1Likely PathogenicBeta-ThalassemiaInati et al. 2013 Proband exhibited two HBA2 and one HBB v...
604131.9.2Lebanon1Likely PathogenicBeta-ThalassemiaInati et al. 2013 Brother of 604131.9.1. Exhibited two HBA...
604131.9.4Lebanon1Likely PathogenicBeta-ThalassemiaInati et al. 2013 Mother of 604131.9.1.
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Contributors

  • Sami Bizzari: 08.03.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Sami Bizzari: 08.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.