CD4 c.753del ;(p.W251*)

Variant ID: 12-6925365-TG-T

NM_000616.4(CD4):c.753del;(p.W251*)

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:

Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.

Journal Of Clinical Immunology
Clarridge, Katherine K; Leitenberg, David D; Loechelt, Brett B; Picard, Capuchine C; Keller, Michael M
Publication Date: 2016-01

Variant appearance in text: CD4: 752delG
PubMed Link: 26634365
Variant Present in the following documents:
  • Main text
View BVdb publication page