NM_001206744.2:c.1472G>A

HGVS Expressions

  • NG_011581.1:g.76267G>A
  • NM_001206744.2:c.1472G>A
  • NP_001193673.1:p.Arg491His
  • NC_000002.12:g.1484729G>A

Associated Genes

Thyroid Peroxidase
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

252491

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274500.3United Arab Emirates2PathogenicThyroid Dyshormonogenesis 2ANicholas et al. 2016
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