NM_000187.3:c.1221G>A

HGVS Expressions

  • NG_011957.1:g.58985G>A
  • NM_000187.3:c.1221G>A
  • NP_000178.2:p.Ala407=
  • NC_000003.12:g.120628497C>T
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

342735

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203500.1Algeria1Likely BenignAlkaptonuriaLadjouze-Rezig et al. 2006 Has two affected sons; Compound heterozy...
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