IL6 c.417_418insC ;(p.A140Rfs*29)

Variant ID: 7-22769225-A-AC

NM_000600.3(IL6):c.417_418insC;(p.A140Rfs*29)

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:

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

Case Reports In Pediatrics
Rafiq, Nadia K NK; Lachmann, Helen H; Joensen, Frodi F; Herlin, Troels T; Brogan, Paul A PA
Publication Date: 2018

Variant appearance in text: IL-6: 417insC
PubMed Link: 30225156
Variant Present in the following documents:
  • Main text
  • CRIPE2018-3514645.pdf
View BVdb publication page