NM_014324.5:c.877T>C

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HGVS Expressions

  • NG_016211.1:g.23751T>C
  • NM_014324.5:c.877T>C
  • NP_055139.4:p.Cys293Arg
  • NC_000005.10:g.33989365A>G

Associated Genes

Alpha-Methylacyl-CoA Racemase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614307.1.1United Arab Emirates2Likely PathogenicAlpha-Methylacyl-CoA Racemase DeficiencyAl-Shamsi et al. 2014; Alsalamah & Khan. 2021
614307.1.2United Arab Emirates2Likely PathogenicAlpha-Methylacyl-CoA Racemase DeficiencyAl-Shamsi et al. 2014; Alsalamah & Khan. 2021 Sibling of 614307.1.1
614307.1.3United Arab Emirates2Likely PathogenicAlpha-Methylacyl-CoA Racemase DeficiencyAl-Shamsi et al. 2014; Alsalamah & Khan. 2021 Sibling of 614307.1.1
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Contributors

  • Sayeeda Hana: 23.09.2021

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 18.07.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 23.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.