NM_000312.3:c.1198G>A

  1. Home
  2. NM_000312.3:c.1198G>A

HGVS Expressions

  • NG_016323.1:g.15339G>A
  • NM_000312.3:c.1198G>A
  • NP_000303.1:p.Gly400Ser
  • NC_000002.12:g.127428758G>A

Associated Genes

Protein C
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1688698427

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612304.5.1United Arab Emirates2Likely PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveBoucher et al. 2018 Received a liver transplant from his het...
612304.5.2United Arab Emirates1Boucher et al. 2018 Father of 612304.5.1
612304.5.3United Arab Emirates1Boucher et al. 2018 Mother of 612304.5.1
612304.5.4United Arab Emirates1Boucher et al. 2018 Maternal aunt (and liver donor) of 61230...
612304.6.1United Arab Emirates2Likely PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveAl Harbi et al. 2017
612304.6.2United Arab Emirates1Al Harbi et al. 2017 Father of 612304.6.1
612304.6.3United Arab Emirates1Al Harbi et al. 2017 Mother of 612304.6.1
Download Table

Contributors

  • Sayeeda Hana: 23.10.2021

Edit History

  • Pratibha Nair: 02.01.2023
  • Sayeeda Hana: 22.02.2022
  • Sayeeda Hana: 17.02.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 23.10.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.