NM_007315.4:c.1760_1761del

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HGVS Expressions

  • NG_008294.1:g.40280AG[1]
  • NM_007315.4:c.1760_1761del
  • NP_009330.1:p.Glu587AlafsTer18
  • NC_000002.12:g.190978971_190978972del

Associated Genes

Signal Transducer and Activator of Transcription 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

587776713

Clinvar

9044

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613796.1.1Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021; Dupuis et al. 2003
613796.1.2Saudi Arabia1Le Voyer et al. 2021; Dupuis et al. 2003 Father of 613796.1.1
613796.1.3Saudi Arabia1Le Voyer et al. 2021; Dupuis et al. 2003 Mother of 613796.1.1
613796.3Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021 Patient had 2 similarly affected older s...
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Contributors

  • Sayeeda Hana: 08.06.2022

Edit History

  • Asha Deepthi: 13.02.2023
  • Sayeeda Hana: 08.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.