NM_139276.3:c.1384_1386GTG[1]

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HGVS Expressions

  • NG_007370.1:g.68453_68455GTG[1]
  • NM_139276.3:c.1384_1386GTG[1]
  • NP_644805.1:p.Val463del

Associated Genes

Signal Transducer and Activator of Transcription 3
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Genomic Location

chr17:42325038-42325040

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

113994138

Clinvar

18303

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147060.1Lebanon1PathogenicHyper-IgE Recurrent Infection Syndrome 1, Autosomal DominantJiao et al, 2008 de novo mutation
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Contributors

  • Pratibha Nair: 22.07.2019

Edit History

  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 22.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.