NM_000243.3:c.1223G>A

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  2. NM_000243.3:c.1223G>A

HGVS Expressions

  • NG_007871.1:g.12160G>A
  • NM_000243.3:c.1223G>A
  • NP_000234.1:p.Arg408Gln
  • NC_000016.10:g.3249468C>T

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

11466024

Clinvar

2552

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.20Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 03.02.2021

Edit History

  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 03.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.