NM_007315.4:c.603G>T

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HGVS Expressions

  • NG_008294.1:g.21004G>T
  • NM_007315.4:c.603G>T
  • NP_009330.1:p.Lys201Asn
  • NC_000002.12:g.190998247C>A

Associated Genes

Signal Transducer and Activator of Transcription 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587776870

Clinvar

30082

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613796.8.1Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021; Kong et al. 2010
613796.8.2Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021; Kong et al. 2010 Sister of 613796.8.1
613796.8.3Saudi Arabia1Le Voyer et al. 2021; Kong et al. 2010 Father of 613796.8.1
613796.8.4Saudi Arabia1Le Voyer et al. 2021; Kong et al. 2010 Mother of 613796.8.1
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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.