NM_000309.5:c.1015G>A

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  2. NM_000309.5:c.1015G>A

HGVS Expressions

  • NG_012877.2:g.9046G>A
  • NM_000309.5:c.1015G>A
  • NP_001116236.1:p.Glu339Lys

Associated Genes

Protoporphyrinogen Oxidase
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Genomic Location

chr1:161170436

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
176200.1.1Lebanon2PathogenicVariegate PorphyriaAl-Hage et al. 2020 Other affected relatives
176200.1.2Lebanon2PathogenicVariegate PorphyriaAl-Hage et al. 2020 Maternal uncle of 176200.1.1
176200.1.3Lebanon1PathogenicAl-Hage et al. 2020 Mother of 176200.1.1
176200.1.4Lebanon1PathogenicAl-Hage et al. 2020 Father of 176200.1.1
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.