NM_000784.4:c.1263+1G>A

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HGVS Expressions

  • NG_007959.1:g.37711G>A
  • NM_000784.4:c.1263+1G>A
  • NP_000775.1:p.?
  • NC_000002.12:g.218814459G>A

Associated Genes

Cytochrome P450, Subfamily XXVIIA, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397515355

Clinvar

4262

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213700.1.1Saudi Arabia2PathogenicCerebrotendinous XanthomatosisKhan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013; Patel et al. 2017
213700.1.2Saudi Arabia2PathogenicCerebrotendinous XanthomatosisKhan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013; Patel et al. 2017 Sister of 213700.1.1
213700.1.3Saudi Arabia2PathogenicCerebrotendinous XanthomatosisKhan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013; Patel et al. 2017 Brother of 213700.1.1
213700.1.4Saudi Arabia1Khan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013 Father of 213700.1.1. "Slit-lamp examina...
213700.1.5Saudi Arabia1Khan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013 Mother of 213700.1.1. "Slit-lamp examina...
213700.1.6Saudi Arabia1Khan et al. 2015; Aldahmesh et al. 2012; Khan et al. 2013 Sister of 213700.1.1. "There were no fle...
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Contributors

  • Sayeeda Hana: 08.02.2023

Edit History

  • Sayeeda Hana: 08.02.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.