NM_000312.3:c.1238_1241delCCTG

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HGVS Expressions

  • NG_016323.1:g.15379_15382delCCTG
  • NM_000312.3:c.1238_1241delCCTG

Associated Genes

Protein C
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Genomic Location

chr2:127428798:127428801

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612304.1.1Saudi Arabia2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveAbu-Amero et al. 2003
612304.1.2Saudi Arabia1PathogenicAbu-Amero et al. 2003 Mother of 612304.1.1
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Contributors

  • Pratibha Nair: 08.04.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 08.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.