CD4 c.466_468delinsCAT ;(p.R156H)

Variant ID: 12-6924017-AGG-CAT

NM_000616.4(CD4):c.466_468delinsCAT;(p.R156H)

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:

Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels.

Italian Journal Of Pediatrics
Palamaro, Loredana L; Giardino, Giuliana G; Santamaria, Francesca F; Romano, Rosa R; Fusco, Anna A; Montella, Silvia S; Salerno, Mariacarolina M; Ursini, Matilde Valeria MV; Pignata, Claudio C
Publication Date: 2012-09-19

Variant appearance in text: CD4: R156H
PubMed Link: 22992471
Variant Present in the following documents:
  • Main text
  • 1824-7288-38-46.pdf
View BVdb publication page