NM_000419.5:c.138dup

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HGVS Expressions

  • NG_008331.1:g.5170dup
  • NM_000419.5:c.138dup
  • NP_000410.2:p.Gly47TrpfsTer56
  • NC_000017.11:g.44389336dup

Associated Genes

Integrin, Alpha-2B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

1684324

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273800.1Lebanon2Likely PathogenicGlanzmann ThrombastheniaJalkh et al. 2019
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Contributors

  • Pratibha Nair: 22.11.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 22.11.2020
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© CAGS 2024. All rights reserved.