NM_000187.3:c.652delG

HGVS Expressions

  • NG_011957.1:g.43041del
  • NM_000187.3:c.652delG
  • NP_000178.2:p.Ala218ProfsTer11
  • NC_000003.12:g.120644444del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

189061

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203500.4Algeria1PathogenicAlkaptonuriaLadjouze-Rezig et al. 2006 Compound heterozygote; second mutation u...
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