MEFV c.1337A>C ;(p.E446A)

Variant ID: 16-3298928-T-G

NM_000243.2(MEFV):c.1337A>C;(p.E446A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.

Journal Of The American Heart Association
Peet, Claire J CJ; Rowczenio, Dorota D; Omoyinmi, Ebun E; Papadopoulou, Charalampia C; Mapalo, Bella Ruth R BRR; Wood, Michael R MR; Capon, Francesca F; Lachmann, Helen J HJ
Publication Date: 2022-06-07

Variant appearance in text: MEFV: 1337A>C
PubMed Link: 35658515
Variant Present in the following documents:
  • Main text
  • JAH3-11-e024931.pdf
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MEFV: Glu446Ala
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page