Variant: rs137853027 

    present in Gene: DYNC2H1
    present in Chromosome: 11
    Position on Chromosome: 103220720
    Alleles of this Variant: A/G

rs137853027 in DYNC2H1 gene and Jeune thoracic dystrophy PMID 19442771 2009 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

PMID 23339108 2013 Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

PMID 23456818 2013 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

rs137853027 in DYNC2H1 gene and Saldino-Noonan Syndrome PMID 23456818 2013 Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

PMID 19442771 2009 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

PMID 19361615 2009 Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.