This mutation occurs in GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A