NM_000312.3:c.796+3A>T

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  2. NM_000312.3:c.796+3A>T

HGVS Expressions

  • NG_016323.1:g.13806A>T
  • NM_000312.3:c.796+3A>T

Associated Genes

Protein C
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Genomic Location

chr2:127427225

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612304.3.1Saudi Arabia2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveAl-Hamed et al. 2016
612304.3.2Saudi Arabia1PathogenicAl-Hamed et al. 2016 Father of 612304.3.1
612304.3.3Saudi Arabia1PathogenicAl-Hamed et al. 2016 Mother of 612304.3.1
612304.3.4Saudi Arabia1PathogenicAl-Hamed et al. 2016 Sister of 612304.3.1
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Contributors

  • Pratibha Nair: 08.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 08.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.