This sequence change occurs on Chromosome 17, altering G6PC3, LOC130060959 (glucose-6-phosphatase catalytic subunit 3| ATAC-STARR-seq lymphoblastoid active region 12250). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency