NM_032790.3:c.493dup

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HGVS Expressions

  • NG_007500.1:g.19656dup
  • NM_032790.3:c.493dup
  • NP_116179.2:p.His165ProfsTer2
  • NC_000012.12:g.121641230dup

Associated Genes

ORAI Calcium Release-Activated Calcium Modulator 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612782.1.1United Arab Emirates2PathogenicImmunodeficiency 9Chou et al. 2015 The patient also had two deceased siblin...
612782.1.2United Arab Emirates2PathogenicImmunodeficiency 9Chou et al. 2015 Sister of 612782.1.1
605988.GUnited Arab EmiratesAlmarzooqi et al. 2021 Study on symptomatic and asymptomatic Em...
612782.1.G.1United Arab Emirates5Chou et al. 2015 Group of unaffected relatives of 612782....
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Contributors

  • Sayeeda Hana: 16.06.2021

Edit History

  • Sami Bizzari: 26.07.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 17.06.2021
  • Sayeeda Hana: 16.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.