NM_000243.3:c.2084A>G

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  2. NM_000243.3:c.2084A>G

HGVS Expressions

  • NG_007871.1:g.18225A>G
  • NM_000243.3:c.2084A>G
  • NP_000234.1:p.Lys695Arg

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3243403

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895094

Clinvar

2547

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.2.2Lebanon1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
249100.17Lebanon1PathogenicFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 28.07.2020

Edit History

  • Sayeeda Hana: 15.02.2021
  • Sayeeda Hana: 22.09.2020
  • Sayeeda Hana: 28.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.