OR56A3 c.473T>A ;(p.L158H)

Variant ID: 11-5969049-T-A

NM_001003443.2(OR56A3):c.473T>A;(p.L158H)

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:

Combined immunodeficiency in a patient with c-Rel deficiency.

The Journal Of Allergy And Clinical Immunology
Beaussant-Cohen, Sarah S; Jaber, Faris F; Massaad, Michel J MJ; Weeks, Sabrina S; Jones, Jennifer J; Alosaimi, Mohammed F MF; Wallace, Jacqueline J; Al-Herz, Waleed W; Geha, Raif S RS; Chou, Janet J
Publication Date: 2019-08

Variant appearance in text: OR56A3: 473T>A
PubMed Link: 31103457
Variant Present in the following documents:
  • Main text
View BVdb publication page