NM_000407.4:c.423C>A

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HGVS Expressions

  • NG_007974.1:g.5724C>A
  • NM_000407.4:c.423C>A
  • NP_000398.1:p.Cys141Ter
  • NC_000022.11:g.19724266C>A

Associated Genes

Glycoprotein Ib Platelet Subunit Beta
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Clinvar Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1324499

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231200.1Syria2Bernard-Soulier SyndromeMahfouz et al., 2012 Proband
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Contributors

  • Asha Deepthi: 30.05.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Asha Deepthi: 30.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.