Hb Malay NM_000518.5:c.59A>G

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  2. Hb Malay NM_000518.5:c.59A>G

HGVS Expressions

  • NG_059281.1:g.5109A>G
  • NM_000518.5:c.59A>G
  • NP_000509.1:p.Asn20Ser

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226963

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33972047

Clinvar

15258

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.13Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 2 patient from 'family 11' in the public...
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Contributors

  • Asha Deepthi: 27.12.2020

Edit History

  • Asha Deepthi: 27.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.