NM_021798.3:c.602G>T

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  2. NM_021798.3:c.602G>T

HGVS Expressions

  • NG_012222.1:g.47235G>T
  • NM_021798.3:c.602G>T
  • NP_068570.1:p.Arg201Leu

Associated Genes

Interleukin 21 Receptor
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Genomic Location

chr16:27444636

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514685

Clinvar

42200

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605383.1.1Lebanon2PathogenicImmunodeficiency 56Kotlarz et al, 2013
605383.1.2Lebanon2PathogenicImmunodeficiency 56Kotlarz et al, 2013 Sister of 605383.1.1
605383.1.3Lebanon1PathogenicKotlarz et al, 2013 Brother of 605383.1.1
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Contributors

  • Pratibha Nair: 27.08.2019

Edit History

  • Pratibha Nair: 27.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.