NM_014002.4:c.541-5G>A

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HGVS Expressions

  • NM_014002.4:c.541-5G>A
  • NP_054721.1:p.?
  • NC_000001.11:g.206476673G>A

Associated Genes

Inhibitor Of Nuclear Factor Kappa-B Kinase, Subunit Epsilon
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

187136164

Clinvar

987751

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
152700.1United Arab Emirates1Uncertain SignificanceSystemic Lupus ErythematosusFathalla et al. 2021 variant-disease association not establis...
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Contributors

  • Sami Bizzari: 31.01.2022

Edit History

  • Sayeeda Hana: 07.12.2022
  • Sami Bizzari: 03.02.2022
  • Sami Bizzari: 31.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.