NM_203475.2:c.848_854dup

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HGVS Expressions

  • NM_203475.2:c.848_854dup
  • NP_982301.1:p.Val286ProfsTer32
  • NC_000023.11:g.48514527_48514533dup

Associated Genes

Porcupine O-Acyltransferase
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Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
305600.1Lebanon1NAFocal Dermal HypoplasiaMaalouf D et al. 2012
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Contributors

  • Asha Deepthi: 05.05.2019

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Asha Deepthi: 05.05.2019
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.