NM_000518.5:c.68_74del

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  2. NM_000518.5:c.68_74del

HGVS Expressions

  • NG_059281.1:g.5118_5124del
  • NM_000518.5:c.68_74del
  • NP_000509.1:p.Glu23ValfsTer37

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226949-5226955

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

281864898

Clinvar

869360

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.7Iraq1.0Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
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Contributors

  • Asha Deepthi: 24.12.2020

Edit History

  • Asha Deepthi: 24.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.