NM_203447.3:c.1498C>T

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HGVS Expressions

  • NG_017007.1:g.129217C>T
  • NM_203447.3:c.1498C>T
  • NP_982272.2:p.Arg500Ter
  • NC_000009.12:g.339081C>T

Associated Genes

Dedicator of Cytokinesis 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

770748316

Clinvar

1069888

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611432.1.1Lebanon2PathogenicAlroqi et al. 2017 Diagnosed with IPEX-like disorder
611432.1.2Lebanon2PathogenicAlroqi et al. 2017 First cousin of 611432.1.1. Diagnosed wi...
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Contributors

  • Pratibha Nair: 14.05.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 14.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.