NM_000243.3:c.1958G>A

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  2. NM_000243.3:c.1958G>A

HGVS Expressions

  • NG_007871.1:g.18099G>A
  • NM_000243.3:c.1958G>A
  • NP_000234.1:p.Arg653His

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3243529

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895085

Clinvar

2553

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.2.1Lebanon1PathogenicFamilial 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.