NM_004972.3:c.1849G>T

HGVS Expressions

  • NG_009904.1:g.93526G>T
  • NM_004972.3:c.1849G>T
  • NP_004963.1:p.Val617Phe
  • NC_000009.12:g.5073770G>T

Associated Genes

Janus Kinase 2
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

14662

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600880.1Lebanon1NAPathogenicBudd-Chiari SyndromeMusallam et al, 2010 Patient later developed essential thromb...
614521.1.1Lebanon1PathogenicThrombocythemia 3Nishihori et al. 2014 Patient also suffered from multiple myel...
147796.G.1LebanonPathogenicMyelofibrosisMahfouz et al. 2011 Study with 229 Myeloproliferative Disord...
263300.G.1LebanonPathogenicPolycythemia VeraMahfouz et al. 2011 Study with 229 adult patients with MPD. ...
614521.G.1LebanonPathogenicThrombocythemia 3Mahfouz et al. 2011 Study with 229 Myeloproliferative Disord...
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