NM_000243.3:c.1437C>G

  1. Home
  2. NM_000243.3:c.1437C>G

HGVS Expressions

  • NG_007871.1:g.14462C>G
  • NM_000243.3:c.1437C>G
  • NP_000234.1:p.Phe479Leu

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
Back to search Result
Genomic Location

chr16:3247166

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104895083

Clinvar

2545

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.1.2Jordan11.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000
249100.3.3Jordan1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
249100.G.1.7Lebanon62.9%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 1 homozygote...
Download Table

Contributors

  • Sayeeda Hana: 28.07.2020

Edit History

  • Sayeeda Hana: 22.09.2020
  • Sayeeda Hana: 02.09.2020
  • Sayeeda Hana: 28.07.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.