Hb Summer Hill NM_000518.5:c.157G>C

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HGVS Expressions

  • NG_059281.1:g.5337G>C
  • NM_000518.5:c.157G>C
  • NP_000509.1:p.Asp53His
  • NC_000011.10:g.5226735C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

33961886

Clinvar

15362

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.25LebanonUncertain SignificanceWilkinson et al. 1980 Primipara
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Contributors

  • Asha Deepthi: 01.02.2021

Edit History

  • Asha Deepthi: 01.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.