NM_000243.3:c.530C>T

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HGVS Expressions

  • NG_007871.1:g.7090C>T
  • NM_000243.3:c.530C>T
  • NP_000234.1:p.Thr177Ile

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3254538

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895143

Clinvar

97528

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.2.7Lebanon1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
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Contributors

  • Sayeeda Hana: 22.09.2020

Edit History

  • Sayeeda Hana: 08.01.2021
  • Sayeeda Hana: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.