NM_001012515.3:c.690T>G

HGVS Expressions

  • NG_008175.1:g.28831T>G
  • NM_001012515.3:c.690T>G
  • NP_001012533.1:p.Ile230Met

Associated Genes

Ferrochelatase
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Genomic Location

chr18:57562907

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
177000.3Syria2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017
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