NM_003150.3:c.1909G>A

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  2. NM_003150.3:c.1909G>A

HGVS Expressions

  • NG_007370.1:g.71022G>A
  • NM_003150.3:c.1909G>A
  • NP_644805.1:p.Val637Met

Associated Genes

Signal Transducer and Activator of Transcription 3
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Genomic Location

chr17:42322474

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

113994139

Clinvar

18308

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147060.2Lebanon1PathogenicHyper-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

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