NM_000821.7:c.548A>T

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HGVS Expressions

  • NG_011811.2:g.10283A>T
  • NM_000821.7:c.548A>T
  • NP_000812.2:p.Asp183Val
  • NC_000002.12:g.85556252T>A

Associated Genes

Gamma-Glutamyl Carboxylase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277450.3.1United Arab Emirates2NALikely PathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 1Al Absi et al. 2019
277450.3.2United Arab Emirates1NAAl Absi et al. 2019 Father of 277450.3.1
277450.3.3United Arab Emirates1NAAl Absi et al. 2019 Mother of 277450.3.1
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Contributors

  • Asha Deepthi: 18.08.2022

Edit History

  • Asha Deepthi: 18.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.