NM_012452.3:c.515G>A

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HGVS Expressions

  • NG_007281.1:g.36647G>A
  • NM_012452.3:c.515G>A
  • NP_036584.1:p.Cys172Tyr
  • NC_000017.11:g.16940442C>T

Associated Genes

Tumor Necrosis Factor Receptor Superfamily, Member 13B
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

751216929

Clinvar

449548

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
240500.1Saudi Arabia1Likely PathogenicImmunodeficiency, Common Variable, 2 Monies et al. 2017
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Contributors

  • Asha Deepthi: 18.12.2024

Edit History

  • Asha Deepthi: 18.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.