NM_004238.1:c.2979dup

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HGVS Expressions

  • NG_053017.1:g.125981dup
  • NM_004238.1:c.2979dup
  • NP_004229.1:p.Gly994ArgfsTer5
  • NC_000002.12:g.229802255dup

Associated Genes

Thyroid Hormone Receptor Interactor 12
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1553620494

Clinvar

446140

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617752.1United Arab Emirates1Likely PathogenicClark-Baraitser SyndromeZhang et al. 2017 Variant is de novo
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Contributors

  • Asha Deepthi: 06.05.2021

Edit History

  • Asha Deepthi: 06.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.