Variant: rs1057517363 

    present in Gene: SUMF1
    present in Chromosome: 3
    Position on Chromosome: 4417229
    Alleles of this Variant: C/G

rs1057517363 in SUMF1 gene and Multiple Sulfatase Deficiency Disease PMID 15907468 2005 Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.

PMID 18509892 2008 Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.

PMID 21224894 2011 SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

PMID 24339620 2013 Multiple sulfatase deficiency: A case series of four children.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.