MEFV c.233A>T ;(p.N78I)

Variant ID: 16-3306355-T-A

NM_000243.2(MEFV):c.233A>T;(p.N78I)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: Asn78Ile
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page