present in Gene: COG4
present in Chromosome: 16
Position on Chromosome: 70496367
Alleles of this Variant: C/G;T
rs1555575860 in
COG4 gene and
SAUL-WILSON SYNDROME
PMID 30290151 2018 A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.