NM_004972.3:c.1597A>T

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HGVS Expressions

  • NG_009904.1:g.89764A>T
  • NM_004972.3:c.1597A>T
  • NP_004963.1:p.Asn533Tyr

Associated Genes

Janus Kinase 2
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Genomic Location

chr9:5070008

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208900.1Lebanon1Likely PathogenicLeukemia, Acute MyeloidNair et al. 2018
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Contributors

  • Pratibha Nair: 19.04.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 10.06.2021
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.