NM_007315.4:c.693_696del

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HGVS Expressions

  • NG_008294.1:g.21303_21306del
  • NM_007315.4:c.693_696del
  • NP_009330.1:p.Ile232MetfsTer4
  • NC_000002.12:g.190997946_190997949del

Associated Genes

Signal Transducer and Activator of Transcription 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

762060782

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613796.5.1United Arab Emirates2PathogenicImmunodeficiency 31BLe Voyer et al. 2021
613796.5.2United Arab Emirates1Le Voyer et al. 2021 Father of 613796.5.1
613796.5.3United Arab Emirates1Le Voyer et al. 2021 Mother of 613796.5.1
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Contributors

  • Sayeeda Hana: 08.06.2022

Edit History

  • Sayeeda Hana: 09.06.2022
  • Sayeeda Hana: 08.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.