NM_000243.2:c.(?_911)_(1356_?)del

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HGVS Expressions

  • NM_000243.2:c.(?_911)_(1356_?)del

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Clinvar

987917

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.44United Arab Emirates1Uncertain SignificanceFamilial Mediterranean FeverFathalla et al. 2021 Deletion variant harbored involves exons...
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Contributors

  • Sami Bizzari: 27.01.2022

Edit History

  • Sayeeda Hana: 22.03.2022
  • Sami Bizzari: 01.02.2022
  • Sami Bizzari: 27.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.