NM_001012515.3:c.881T>C

HGVS Expressions

  • NG_008175.1:g.36844T>C
  • NM_001012515.3:c.881T>C
  • NP_001012533.1:p.Met294Thr

Associated Genes

Ferrochelatase
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Genomic Location

chr18:57554894

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
177000.1.1Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017
177000.1.2Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Sibling of 177000.1.1
177000.1.3Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Deceased sibling of 177000.1.1
177000.1.4Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Deceased sibling of 177000.1.1
177000.1.5Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Sibling of 177000.1.1
177000.1.6Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Sibling of 177000.1.1
177000.1.7Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Offspring of 177000.1.1
177000.2.1Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017
177000.2.2Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Sibling of 177000.2.1
177000.2.3Lebanon2PathogenicProtoporphyria, Erythropoietic, 1Kadara et al. 2017 Deceased sibling of 177000.2.1
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