NM_014339.7:c.1574T>C

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HGVS Expressions

  • NG_028257.1:g.28833T>C
  • NM_014339.7:c.1574T>C
  • NP_055154.3:p.Leu525Pro
  • NC_000022.11:g.17108793T>C

Associated Genes

Interleukin 17 Receptor A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3233383

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.7Saudi Arabia2Likely PathogenicImmunodeficiency 51Monies et al. 2017
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Contributors

  • Asha Deepthi: 14.10.2024

Edit History

  • Asha Deepthi: 14.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.