NM_000376.3:c.1056T>C

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HGVS Expressions

  • NG_008731.1:g.65058T>C
  • NM_000376.3:c.1056T>C
  • NP_000367.1:p.Ile352=
  • NC_000012.12:g.47844974A>G

Associated Genes

Vitamin D Receptor
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association, Benign, Likely Benign

Variant Type

Substitution

dbSNP

731236

Clinvar

308877

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.G.43.1United Arab Emirates197NALikely BenignType 2 Diabetes MellitusAl Safar et al. 2018 Study with 264 unrelated T2DM patients (...
125853.G.43.2United Arab Emirates70NAAl Safar et al. 2018 Control group comprising 90 subjects (68...
176807.G.1.1Lebanon560.41BenignProstate CancerEl Ezzi et al. 2017 69 patients with confirmed prostate canc...
176807.G.1.2Lebanon520.38BenignEl Ezzi et al. 2017 69 Lebanese control subjects
600082.G.1.1Lebanon0.62BenignEl Ezzi et al. 2014 68 patients with BPH. VDR SNPs (c.2T>G) ...
600082.G.1.2Lebanon0.38El Ezzi et al. 2014 79 Lebanese controls
601769.G.1.1United Arab Emirates22940.8%BenignOsman et al. 2015 Group of healthy individuals including 1...
601769.G.2.4Lebanon2900.39AssociationHajj et al. 2016 Group of healthy individuals including 5...
601769.G.3.3Lebanon48BenignArabi et al. 2009 VDR polymorphisms (using Bsm1 and Taq1 e...
601769.G.3.4Lebanon89BenignArabi et al. 2009 VDR polymorphisms (using Bsm1 and Taq1 e...
601769.G.4.5Lebanon1700.14BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
601769.G.4.6Lebanon940.14BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
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Contributors

  • Sayeeda Hana: 20.08.2019

Edit History

  • Asha Deepthi: 17.08.2022
  • Pratibha Nair: 04.05.2021
  • Sami Bizzari: 28.03.2021
  • Pratibha Nair: 13.08.2020
  • Pratibha Nair: 06.05.2020
  • Sayeeda Hana: 20.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.