NM_001204401.2:c.1023_1026del

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HGVS Expressions

  • NG_007264.1:g.36086_36089del
  • NM_001204401.2:c.1023_1026del
  • NP_001158.2:p.Asn341fs

Associated Genes

Inhibitor of Apoptosis, X-Linked
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Genomic Location

chrX:123891283-123891286

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300635.1Lebanon1Likely PathogenicLymphoproliferative Syndrome, X-Linked, 2Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 22.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 22.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.