NM_000619.3:c.354_357del

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HGVS Expressions

  • NG_015840.1:g.6817_6820del
  • NM_000619.3:c.354_357del
  • NP_000610.2:p.Thr119fs

Associated Genes

Interferon, Gamma
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Genomic Location

Chr12: 68157922-68157925

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

974678

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618963.1.1Lebanon2PathogenicImmunodeficiency 69Kerner et al. 2020
618963.1.2Lebanon2PathogenicImmunodeficiency 69Kerner et al. 2020 First degree cousin of 618963.1.1
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Contributors

  • Pratibha Nair: 27.12.2020

Edit History

  • Pratibha Nair: 27.12.2020
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© CAGS 2024. All rights reserved.