Hb Doha NM_000518.5:c.5T>A

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  2. Hb Doha NM_000518.5:c.5T>A

HGVS Expressions

  • NG_059281.1:g.5055T>A
  • NM_000518.5:c.5T>A
  • NP_000509.1:p.Val2Glu
  • NC_000011.10:g.5227017A>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

33949930

Clinvar

15159

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.23.1Qatar1Uncertain SignificanceKamel et al. 1985 Proband
613985.23.2Qatar1Uncertain SignificanceKamel et al. 1985 Mother of proband
613985.23.3Qatar1Uncertain SignificanceKamel et al. 1985 Sister of proband
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Contributors

  • Asha Deepthi: 11.01.2021

Edit History

  • Asha Deepthi: 11.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.