NM_000518.5:c.92G>A

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  2. NM_000518.5:c.92G>A

HGVS Expressions

  • NG_059281.1:g.5142G>A
  • NM_000518.5:c.92G>A
  • NP_000509.1:p.Arg31Lys

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226930

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

33960103

Clinvar

36337

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.3Lebanon20.018Likely PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with unspecif...
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Contributors

  • Asha Deepthi: 13.05.2020

Edit History

  • Asha Deepthi: 07.07.2021
  • Asha Deepthi: 14.05.2020
  • Asha Deepthi: 13.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.