Variant: rs80338676

present in Gene: PRPS1 present in Chromosome: X Position on Chromosome: 107642415 Alleles of this Variant: T/C

rs80338676 in PRPS1 gene and ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.