NM_000140.5:c.863T>C

HGVS Expressions

  • NG_008175.1:g.36844T>C
  • NM_000140.5:c.863T>C
  • NP_000131.2:p.Met288Thr
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Genomic Location

chr18:57554894

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
177000.4Lebanon2Likely PathogenicProtoporphyria, Erythropoietic, 1Jalkh et al. 2019 Parents unrelated, but from the same vil...
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