NM_000243.3:c.1105C>T

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HGVS Expressions

  • NG_007871.1:g.12042C>T
  • NM_000243.3:c.1105C>T
  • NP_000234.1:p.Pro369Ser

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3249586

Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

11466023

Clinvar

2551

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
249100.G.1.10Lebanon21%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of 2 heterozygous patients
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Contributors

  • Sayeeda Hana: 28.07.2020

Edit History

  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 02.09.2020
  • Sayeeda Hana: 28.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.