NM_000367.4:c.719A>G

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  2. NM_000367.4:c.719A>G

HGVS Expressions

  • NG_012137.2:g.29457A>G
  • NM_000367.4:c.719A>G
  • NP_001333746.1:p.Tyr240Cys

Associated Genes

Thiopurine S-Methyltransferase
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Genomic Location

chr6:18130687

Clinvar Clinical Significance

Drug Response

CTGA Clinical Significance

Drug Response

Variant Type

Substitution

dbSNP

1142345

Clinvar

12725

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610460.1Lebanon1Drug ResponseThiopurines, Poor Metabolism of, 1Zgheib et al. 2017
610460.2Lebanon1Drug ResponseThiopurines, Poor Metabolism of, 1Zgheib et al. 2017
610460.3Lebanon1Drug ResponseThiopurines, Poor Metabolism of, 1Zgheib et al. 2017
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Contributors

  • Pratibha Nair: 16.08.2020

Edit History

  • Pratibha Nair: 16.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.