NM_021798.3:c.602G>A

HGVS Expressions

  • NG_012222.1:g.47235G>A
  • NM_021798.3:c.602G>A
  • NP_068570.1:p.Arg201Gln

Associated Genes

Interleukin 21 Receptor
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Genomic Location

chr16:27444636

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

638070

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605383.2Palestine2PathogenicImmunodeficiency 56Stepensky et al, 2015
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