NM_000190.4:c.594G>A

HGVS Expressions

  • NG_008093.1:g.11632G>A
  • NM_000190.4:c.594G>A
  • NP_000181.2:p.Trp198Ter
  • NC_000011.10:g.119091508G>A
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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
176000.1.1United Arab Emirates1Likely PathogenicPorphyria, Acute IntermittentYusuf et al. 2023 Patient is comorbid for SLE and AIP.
176000.1.2United Arab Emirates1Likely PathogenicPorphyria, Acute IntermittentYusuf et al. 2023 Sister of 176000.1.1
176000.1.3United Arab Emirates1Likely PathogenicPorphyria, Acute IntermittentYusuf et al. 2023 Cousin of 176000.1.1
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