Variant: rs72650700 

    present in Gene: ABCC6
    present in Chromosome: 16
    Position on Chromosome: 16190247
    Alleles of this Variant: G/A;T

rs72650700 in ABCC6 gene and Pseudoxanthoma Elasticum PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 11439001 2001 Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum.

rs72650700 in ABCC6 gene and Pseudoxanthoma Elasticum, Incomplete PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 11439001 2001 Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.