Variant: rs150181226 

    present in Gene: CANT1
    present in Chromosome: 17
    Position on Chromosome: 78995182
    Alleles of this Variant: A/G

rs150181226 in CANT1 gene and DESBUQUOIS DYSPLASIA 1 PMID 19853239 2009 Identification of CANT1 mutations in Desbuquois dysplasia.

PMID 21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

PMID 21654728 2011 Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

PMID 20425819 2010 Mutation of CANT1 causes Desbuquois dysplasia.

PMID 22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

PMID 21412251 2011 A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.