NM_000383.3:c.1A>G

HGVS Expressions

  • NG_009556.1:g.5128A>G
  • NM_000383.3:c.1A>G
  • NP_000374.1:p.Met1?
  • NC_000021.9:g.44286007A>G

Associated Genes

Autoimmune Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

551136

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
240300.5Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 Affected sister not genotyped
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