NM_139276.3:c.1979T>C

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HGVS Expressions

  • NG_007370.1:g.71092T>C
  • NM_139276.3:c.1979T>C
  • NP_644805.1:p.Met660Thr
  • NC_000017.11:g.42322404A>G

Associated Genes

Signal Transducer and Activator of Transcription 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886039434

Clinvar

265261

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147060.3United Arab Emirates1Likely PathogenicHyper-IgE Recurrent Infection Syndrome 1, Autosomal DominantAlsamri et al. 2020 Atopy reported in family
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Contributors

  • Pratibha Nair: 21.02.2022

Edit History

  • Pratibha Nair: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.