Hb Iraq-Halabja NM_000518.5:c.32C>T

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  2. Hb Iraq-Halabja NM_000518.5:c.32C>T

HGVS Expressions

  • NG_059281.1:g.5082C>T
  • NM_000518.5:c.32C>T
  • NP_000509.1:p.Ala11Val

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226990

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

33947457

Clinvar

15571

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.10.1Iraq1NAUncertain SignificanceBeta-ThalassemiaDeutsch et al. 1999 Proband (patient #3444 in the publicatio...
613985.10.3Iraq1NAUncertain SignificanceBeta-ThalassemiaDeutsch et al. 1999 Brother of proband (patient #5825 in the...
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Contributors

  • Asha Deepthi: 23.12.2020

Edit History

  • Asha Deepthi: 23.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.