NM_007315.4:c.1220T>G

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HGVS Expressions

  • NG_008294.1:g.32396T>G
  • NM_007315.4:c.1220T>G
  • NP_009330.1:p.Leu407Arg
  • NC_000002.12:g.190986855A>C

Associated Genes

Signal Transducer and Activator of Transcription 1
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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
613796.9Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021 Patient had a similarly affected older b...
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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.