NM_000243.3:c.501G>C

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  2. NM_000243.3:c.501G>C

HGVS Expressions

  • NG_007871.1:g.7061G>C
  • NM_000243.3:c.501G>C
  • NP_000234.1:p.Glu167Asp

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3254567

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895079

Clinvar

2543

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.2.5Lebanon1PathogenicFamilial 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.