Variant: rs80338711 

    present in Gene: ARSL
    present in Chromosome: X
    Position on Chromosome: 2953163
    Alleles of this Variant: C/A;G

rs80338711 in ARSL gene and Brachytelephalangic Chondrodysplasia Punctata PMID 12567415 2003 X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

PMID 7720070 1995 A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

PMID 9409863 1997 X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.