NM_000518.5:c.90C>T

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  2. NM_000518.5:c.90C>T

HGVS Expressions

  • NG_059281.1:g.5140C>T
  • NM_000518.5:c.90C>T
  • NP_000509.1:p.Gly30=

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226932

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

35578002

Clinvar

38682

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.3Lebanon40.036PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with unspecif...
613985.G.3.1Lebanon500.096PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
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Contributors

  • Asha Deepthi: 13.05.2020

Edit History

  • Asha Deepthi: 07.07.2021
  • Asha Deepthi: 16.11.2020
  • Asha Deepthi: 14.05.2020
  • Asha Deepthi: 13.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.