NM_139276.3:c.373C>G

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HGVS Expressions

  • NG_007370.1:g.54087C>G
  • NM_139276.3:c.373C>G
  • NP_644805.1:p.Gln125Glu
  • NC_000017.11:g.42339409G>C

Associated Genes

Signal Transducer and Activator of Transcription 3
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

574370336

Clinvar

546794

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.1United Arab Emirates2Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Several variants could be contributing t...
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Contributors

  • Pratibha Nair: 17.02.2022

Edit History

  • Pratibha Nair: 06.12.2022
  • Pratibha Nair: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.