NM_000215.3:c.2141C>T

HGVS Expressions

  • NG_007273.1:g.18082C>T
  • NM_000215.3:c.2141C>T
  • NP_000206.2:p.Thr714Met

Associated Genes

Janus Kinase 3
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Genomic Location

chr19:17834910

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600802.1Lebanon2PathogenicSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-NegativeNair et al. 2018
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