NM_001206744.2:c.2421del

HGVS Expressions

  • NG_011581.1:g.95520del
  • NM_001206744.2:c.2421del
  • NP_001193673.1:p.Cys808AlafsTer24
  • NC_000002.12:g.1503982del

Associated Genes

Thyroid Peroxidase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

623380

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274500.2.1Oman2PathogenicThyroid Dyshormonogenesis 2ANicholas et al. 2016
274500.2.2Oman2PathogenicThyroid Dyshormonogenesis 2ANicholas et al. 2016 Sibling of 274500.2.1
274500.2.3Oman2PathogenicThyroid Dyshormonogenesis 2ANicholas et al. 2016 Cousin of 274500.2.1
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