Variant: rs1057517277

present in Gene: ADAMTS2 present in Chromosome: 5 Position on Chromosome: 179128118 Alleles of this Variant: CTGTGCC/-

rs1057517277 in ADAMTS2 gene and EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE PMID 23495203 2013 Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.