NM_000243.3:c.2076_2078del

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  2. NM_000243.3:c.2076_2078del

HGVS Expressions

  • NG_007871.1:g.18217_18219del
  • NM_000243.3:c.2076_2078del
  • NP_000234.1:p.Ile692del

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3243411-3243413

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

104895093

Clinvar

97485

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.G.1.9Lebanon52.4%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 4 compound h...
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Contributors

  • Sayeeda Hana: 28.07.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 02.09.2020
  • Sayeeda Hana: 28.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.