Hb Tacoma NM_000518.5:c.93G>T

HGVS Expressions

  • NG_000007.3:g.70817G>T
  • NM_000518.5:c.93G>T
  • NP_000509.1:p.Arg31Ser
  • NC_000011.10:g.5226799C>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1135071

Clinvar

15368

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.16United Arab Emirates2NAUncertain SignificanceEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
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