PGM2L1 c.1518G>T ;(p.R506S)

Variant ID: 11-74053620-C-A

NM_173582.3(PGM2L1):c.1518G>T;(p.R506S)

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:

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Cellular & Molecular Immunology
Lehmkuhl, Peter P; Gentz, Magdalena M; Garcia de Otezya, Andres Caballero AC; Grimbacher, Bodo B; Schulze-Koops, Hendrik H; Skapenko, Alla A
Publication Date: 2021-07

Variant appearance in text: PGM2L1: 1518G>T; Arg506Ser; rs369829875
PubMed Link: 34059789
Variant Present in the following documents:
  • 41423_2021_701_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page