Hb Tizi-Ouzou NM_000518.5:c.88G>A

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  2. Hb Tizi-Ouzou NM_000518.5:c.88G>A

HGVS Expressions

  • NG_059281.1:g.5138G>A
  • NM_000518.5:c.88G>A
  • NP_000509.1:p.Gly30Ser

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226934

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

33974277

Clinvar

15615

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.5AlgeriaNALikely PathogenicLacan et al. 2004 Patient is carrier of Hb Tizi-Ouzou and ...
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Contributors

  • Asha Deepthi: 13.12.2020

Edit History

  • Asha Deepthi: 13.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.