NM_001739.2:c.59G>A

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HGVS Expressions

  • NG_033227.2:g.5138G>A
  • NM_001739.2:c.59G>A
  • NP_001730.1:p.Trp20Ter
  • NC_000016.10:g.87936392C>T

Associated Genes

Carbonic Anhydrase VA
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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
215751.5.1Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Patient's parents belong to the same tri...
215751.5.2Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.5.1
215751.6Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Parents belong to the same tribe
215751.7.1Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Parents belong to the same tribe
215751.7.2Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.7.1
215751.7.3Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.7.1
215751.7.4Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.7.1
215751.8.1Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Parents belong to the same tribe
215751.8.2Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.8.1
215751.8.3Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 215751.8.1
615751.1Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Patient's parents belong to the same tri...
615751.2.1Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Patient's parents belong to the same tri...
615751.2.2Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 615751.2.1
615751.2.3Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Relative of 615751.2.1
615751.3Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Patient's parents belong to the same tri...
615751.4Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Patient's parents belong to the same tri...
615751.9Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Parents belong to the same tribe
615751.10Oman; United Arab Emirate...2PathogenicCarbonic Anhydrase VA Deficiency, Hyperammonemia Due ToAl-Thihli et al. 2024 Parents belong to the same tribe
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Contributors

  • Sayeeda Hana: 11.01.2025

Edit History

  • Sayeeda Hana: 13.01.2025
  • Sayeeda Hana: 12.01.2025
  • Sayeeda Hana: 11.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.