NM_000298.5:c.1151C>T

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  2. NM_000298.5:c.1151C>T

HGVS Expressions

  • NG_011677.1:g.12879C>T
  • NM_000298.5:c.1151C>T
  • NP_000289.1:p.Thr384Met
  • NC_000001.11:g.155293556G>A

Associated Genes

Pyruvate Kinase, Liver and Red Blood Cell
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74315362

Clinvar

1507

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266200.1.1Lebanon2PathogenicPyruvate Kinase Deficiency of Red CellsNeubauer et al. 1991
266200.1.2Lebanon1PathogenicNeubauer et al. 1991 Mother of 266200.1.1
266200.1.3Lebanon1PathogenicNeubauer et al. 1991 Father of 266200.1.1
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Contributors

  • Pratibha Nair: 06.12.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 06.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.