CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]

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  2. CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]

HGVS Expressions

  • NG_008383.1:g.[3739G>A;3979C>T]
  • NM_000773.3:c.[-1295G>C;-1055C>T]
  • NC_000010.11:g.[133526101G>A;133526341C>T]

Associated Genes

Cytochrome P450, Subfamily IIE
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CTGA Clinical Significance

Benign, Protective, Risk factor, Uncertain Significance

Variant Type

Haplotype

dbSNP

3813867 2031920

Clinvar

16887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
109800.G.1LebanonRisk factorBladder CancerYassine et al. 2012 54 cases with bladder cancer and 106 con...
114480.G.4LebanonUncertain SignificanceBreast CancerZgheib et al. 2013 Study indicated no significant statistic...
124040.G.2LebanonBenign, ProtectiveCoronary Heart Disease, Susceptibility to, 1Zgheib et al. 2010 Among 231 patients with morbid diseases,...
607339.G.4LebanonProtectiveCoronary Heart Disease, Susceptibility to, 1Zgheib et al. 2010 Among 231 patients with morbid disease, ...
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Contributors

  • Asha Deepthi: 18.01.2021

Edit History

  • Pratibha Nair: 10.05.2021
  • Sami Bizzari: 23.03.2021
  • Asha Deepthi: 20.01.2021
  • Asha Deepthi: 18.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.