WDR43 c.1524_1524+1insCTTACAAAGAG ;(p.R512Sfs*15)

Variant ID: 2-29158468-C-CAAGAGCTTACA

NM_015131.1(WDR43):c.1524_1524+1insCTTACAAAGAG;(p.R512Sfs*15)

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: WDR43: Arg512SerfsTer15; rs1211106528
PubMed Link: 34059789
Variant Present in the following documents:
  • 41423_2021_701_MOESM3_ESM.xlsx, sheet 1
  • 41423_2021_701_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page