Variant: rs28942077

present in Gene: LYST present in Chromosome: 1 Position on Chromosome: 235766204 Alleles of this Variant: A/G;T

rs28942077 in LYST gene and Chediak-Higashi Syndrome PMID 11857544 2002 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

PMID 24521565 2014 Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.