NM_000132.3:c.6858_6868del

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HGVS Expressions

  • NG_011403.1:g.167250_167260del
  • NM_000132.3:c.6858_6868del
  • NP_000123.1:p.Asp2286GlufsTer95
  • NC_000023.11:g.154860464_154860474del

Associated Genes

Coagulation Factor VIII
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306700.G.1Lebanon1Likely PathogenicHemophilia ADjambas Khayat et al. 2008 79 hemophilia patients from 55 Lebanese ...
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Contributors

  • Pratibha Nair: 15.07.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 15.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.