Variant: rs387907209 

    present in Gene: ABCC9
    present in Chromosome: 12
    Position on Chromosome: 21842326
    Alleles of this Variant: C/G;T

rs387907209 in ABCC9 gene and CARDIOMYOPATHY, DILATED, 1O PMID 26871653 2017 De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

rs387907209 in ABCC9 gene and Cantu syndrome PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 26621776 2015 Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.