NM_000312.3:c.811C>T

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HGVS Expressions

  • NG_016323.1:g.14952C>T
  • NM_000312.3:c.811C>T
  • NP_000303.1:p.Arg271Trp
  • NC_000002.12:g.127428371C>T

Associated Genes

Protein C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

767112991

Clinvar

536970

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612304.2.1Saudi Arabia2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveAlsultan et al. 2016
612304.2.2Saudi Arabia2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveAlsultan et al. 2016 First cousin of 612304.2.1
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Contributors

  • Pratibha Nair: 08.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 08.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.