NM_005546.4:c.1562C>T

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HGVS Expressions

  • NG_016276.1:g.70032C>T
  • NM_005546.4:c.1562C>T
  • NP_005537.3:p.Pro521Leu
  • NC_000005.10:g.157245928C>T

Associated Genes

IL2-Inducible T-Cell Kinase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

759932471

Clinvar

1481575

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613011.1Iraq2PathogenicLymphoproliferative Syndrome 1Wallace et al, 2020
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Contributors

  • Sayeeda Hana: 10.11.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 10.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.