NM_203447.4:c.2248G>T

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HGVS Expressions

  • NG_017007.1:g.167155G>T
  • NM_203447.4:c.2248G>T
  • NP_982272.2:p.Glu750Ter
  • NC_000009.12:g.377019G>T

Associated Genes

Dedicator of Cytokinesis 8
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1192065366

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243700.1Lebanon2PathogenicHyper-IgE Recurrent Infection Syndrome 2, Autosomal RecessiveEngelhardt et al. 2015 Patient 'ARH027' in the publication
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Contributors

  • Asha Deepthi: 24.02.2021

Edit History

  • Sayeeda Hana: 07.06.2021
  • Asha Deepthi: 24.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.