Hb Tsukumi NM_000518.5:c.349C>T

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HGVS Expressions

  • NG_059281.1:g.6379C>T
  • NM_000518.5:c.349C>T
  • NP_000509.1:p.His117Tyr
  • NC_000011.10:g.5225693G>A

Associated Genes

Hemoglobin - Beta Locus
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CTGA Clinical Significance

Likely Benign, Uncertain Significance

Variant Type

Substitution

dbSNP

34049764

Clinvar

15582

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.22MoroccoLikely Benign, Uncertain SignificanceBeta-ThalassemiaNorth et al. 2001
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Contributors

  • Asha Deepthi: 10.01.2021

Edit History

  • Asha Deepthi: 10.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.