NM_000376.3:c.2T>G

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  2. NM_000376.3:c.2T>G

HGVS Expressions

  • NG_008731.1:g.30920T>G
  • NM_000376.3:c.2T>G
  • NP_000367.1:p.Met1?
  • NC_000012.12:g.47879112A>C

Associated Genes

Vitamin D Receptor
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Clinvar Clinical Significance

Benign, Likely Pathogenic

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

2228570

Clinvar

308887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600082.G.1.1Lebanon0.68BenignEl Ezzi et al. 2014 68 patients with BPH. VDR SNPs (c.2T>G) ...
600082.G.1.2Lebanon0.32El Ezzi et al. 2014 79 Lebanese controls
600807.G.2.1United Arab Emirates0.792BenignAl Mousa. 2019 33 moderate to severe asthmatics. rs7975...
600807.G.2.2United Arab Emirates0.797BenignAl Mousa. 2019 79 mild asthmatics
600807.G.2.3United Arab Emirates0.235BenignAl Mousa. 2019 164 healthy subjects
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Contributors

  • Pratibha Nair: 04.05.2021

Edit History

  • Pratibha Nair: 06.12.2022
  • Pratibha Nair: 08.03.2022
  • Pratibha Nair: 04.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.