NM_000243.3:c.800C>T

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  2. NM_000243.3:c.800C>T

HGVS Expressions

  • NG_007871.1:g.7360C>T
  • NM_000243.3:c.800C>T
  • NP_000234.1:p.Thr267Ile

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3254268

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895081

Clinvar

2544

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.1.3Jordan11.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000
249100.3.2Jordan1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
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Contributors

  • Sayeeda Hana: 22.09.2020

Edit History

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