NM_003235.5:c.638+5G>A

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HGVS Expressions

  • NG_015832.1:g.11267G>A
  • NM_003235.5:c.638+5G>A
  • NC_000008.11:g.132873226G>A

Associated Genes

Thyroglobulin
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74274702

Clinvar

218239

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274700.3.1Iraq2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016
274700.3.2Iraq2PathogenicThyroid Dyshormonogenesis 3Nicholas et al. 2016 Sister of 274700.3.1
274700.3.3Iraq1Nicholas et al. 2016 Father of 274700.3.1
274700.3.4Iraq1Nicholas et al. 2016 Mother of 274700.3.1
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Contributors

  • Sayeeda Hana: 12.09.2021

Edit History

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