NM_001206744.2:c.1994G>A

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HGVS Expressions

  • NG_011581.1:g.85565G>A
  • NM_001206744.2:c.1994G>A
  • NP_001193673.1:p.Arg665Gln
  • NC_000002.12:g.1494027G>A

Associated Genes

Thyroid Peroxidase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

140124953

Clinvar

374344

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274500.1United Arab Emirates2PathogenicThyroid Dyshormonogenesis 2ANicholas et al. 2016
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Contributors

  • Sayeeda Hana: 12.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 13.09.2021
  • Sayeeda Hana: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.