IFNGR1 c.347C>A ;(p.S116*)

Variant ID: 6-137527299-G-T

NM_000416.2(IFNGR1):c.347C>A;(p.S116*)

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:

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

International Journal Of Infectious Diseases : Ijid : Official Publication Of The International Society For Infectious Diseases
Qu, Hui-Qi HQ; Fisher-Hoch, Susan P SP; McCormick, Joseph B JB
Publication Date: 2011-05

Variant appearance in text: IFNGR1: 347C>A
PubMed Link: 21330176
Variant Present in the following documents:
  • Main text
View BVdb publication page