NM_000132.3:c.207_208del

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HGVS Expressions

  • NG_011403.1:g.28187_28188del
  • NM_000132.3:c.207_208del
  • NP_000123.1:p.Phe70CysfsTer12
  • NC_000023.11:g.154999537_154999538del

Associated Genes

Coagulation Factor VIII
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1338553567

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306700.G.1Lebanon2Likely 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.