NM_000035.4:c.524C>A

HGVS Expressions

  • NG_012387.1:g.13283C>A
  • NM_000035.4:c.524C>A
  • NP_000026.2:p.Ala175Asp
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Genomic Location

chr9:101427498

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

465

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
229600.1Lebanon2PathogenicFructose Intolerance, HereditaryNair et al. 2018
229600.2Jordan2PathogenicFructose Intolerance, HereditaryAli et al. 2011
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