Variant: rs754944359

present in Gene: AP4S1 present in Chromosome: 14 Position on Chromosome: 31066239 Alleles of this Variant: C/G;T

rs754944359 in AP4S1 gene and Spastic Paraplegia PMID 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.