CD4 c.356A>G ;(p.Q119R)

Variant ID: 12-6923449-A-G

NM_000616.4(CD4):c.356A>G;(p.Q119R)

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:

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Frontiers In Immunology
Eskandarian, Zoya Z; Fliegauf, Manfred M; Bulashevska, Alla A; Proietti, Michele M; Hague, Rosie R; Smulski, Cristian Roberto CR; Schubert, Desirée D; Warnatz, Klaus K; Grimbacher, Bodo B
Publication Date: 2019

Variant appearance in text: CD4: 356A>G
PubMed Link: 31057532
Variant Present in the following documents:
  • Main text
View BVdb publication page