CD4 c.340C>T ;(p.Q114*)

Variant ID: 12-6923433-C-T

NM_000616.4(CD4):c.340C>T;(p.Q114*)

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:

Atypical Presentations of IPEX: Expect the Unexpected.

Frontiers In Pediatrics
Consonni, Filippo F; Ciullini Mannurita, Sara S; Gambineri, Eleonora E
Publication Date: 2021

Variant appearance in text: CD4: 340C>T
PubMed Link: 33614561
Variant Present in the following documents:
  • Main text
View BVdb publication page