IL1B (+3954) NM_000576.3:c.315C>T

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  2. IL1B (+3954) NM_000576.3:c.315C>T

HGVS Expressions

  • NG_008851.1:g.8967C>T
  • NM_000576.3:c.315C>T
  • NP_000567.1:p.Phe105=
  • NC_000002.12:g.112832813G>A

Associated Genes

Interleukin 1-Beta
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Clinvar Clinical Significance

Association

CTGA Clinical Significance

Association, Benign

Variant Type

Substitution

dbSNP

1143634

Clinvar

869137

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.43Lebanon2AssociationFamilial Mediterranean FeverIbrahim et al. 2015 1 homozygous FMF patient. "TT genotype a...
Lebanese CytokineLebanon0.2925BenignMahfouz et al. 2009 Frequency of cytokine gene alleles in 10...
145500.G.10.1United Arab Emirates470.36AssociationFrossard et al. 2002 70 hypertensives
145500.G.10.2United Arab Emirates580.43AssociationFrossard et al. 2002 72 normotensives
249100.G.10.1Lebanon44AssociationFamilial Mediterranean FeverIbrahim et al. 2015 Group of 22 FMF patients homozygous for ...
249100.G.10.2Lebanon19AssociationFamilial Mediterranean FeverIbrahim et al. 2015 Group of 19 heterozygous FMF patients. "...
249100.G.10.3Lebanon28Ibrahim et al. 2015 Group of 14 healthy controls homozygous ...
249100.G.10.4Lebanon19Ibrahim et al. 2015 Group of 19 heterozygous healthy control...
249100.G.10.5Lebanon18Ibrahim et al. 2015 Group of 9 homozygous healthy controls. ...
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Contributors

  • Pratibha Nair: 05.09.2021
  • Sayeeda Hana: 23.02.2021

Edit History

  • Sayeeda Hana: 13.01.2023
  • Pratibha Nair: 05.09.2021
  • Sami Bizzari: 29.03.2021
  • Sayeeda Hana: 23.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.