NM_007315.4:c.1852G>T

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HGVS Expressions

  • NG_008294.1:g.40374G>T
  • NM_007315.4:c.1852G>T
  • NP_009330.1:p.Glu618Ter
  • NC_000002.12:g.190978877C>A

Associated Genes

Signal Transducer and Activator of Transcription 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1574640523

Clinvar

809129

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613796.6.1Palestine2PathogenicImmunodeficiency 31BLe Voyer et al. 2021
613796.6.2Palestine1Le Voyer et al. 2021 Father of 613796.6.1
613796.6.3Palestine1Le Voyer et al. 2021 Mother of 613796.6.1
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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.