NM_004341.5:c.2892+164T>C

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HGVS Expressions

  • NG_046394.1:g.20469T>C
  • NM_004341.5:c.2892+164T>C
  • NP_004332.2:p.?
  • NC_000002.12:g.27232858T>C

Associated Genes

Carbamoyl Phosphate Synthetase/Aspartate Transcarbamylase/Dihydroorotase
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Clinvar Clinical Significance

Benign

Variant Type

Substitution

dbSNP

13399758

Clinvar

1287534

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605552.G.3.1United Arab Emirates0.161Osman et al. 2020b 376 individuals with metabolic syndrome
605552.G.3.2United Arab Emirates0.101Osman et al. 2020b 104 control subjects
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Contributors

  • Pratibha Nair: 19.04.2022

Edit History

  • Asha Deepthi: 12.01.2023
  • Pratibha Nair: 05.12.2022
  • Pratibha Nair: 26.04.2022
  • Pratibha Nair: 19.04.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.