NM_001374385.1:c.379C>G

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HGVS Expressions

  • NG_007148.2:g.103527C>G
  • NM_001374385.1:c.379C>G
  • NP_001361314.1:p.Leu127Val
  • NC_000018.10:g.57704569G>C

Associated Genes

ATPase, Class I, Type 8B, Member 1
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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
243300.1.1United Arab Emirates2PathogenicCholestasis, Benign Recurrent Intrahepatic, 1Al-Shamsi et al. 2016
243300.1.2United Arab Emirates2PathogenicCholestasis, Benign Recurrent Intrahepatic, 1Al-Shamsi et al. 2016 Sibling of 243300.1.1
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Contributors

  • Pratibha Nair: 05.07.2020

Edit History

  • Sami Bizzari: 03.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 06.07.2020
  • Pratibha Nair: 05.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.