Variant: rs121908425 

    present in Gene: EVC;CRMP1
    present in Chromosome: 4
    Position on Chromosome: 5748226
    Alleles of this Variant: C/A;T

rs121908425 in EVC;CRMP1 gene and Ellis-Van Creveld Syndrome PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

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

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

rs121908425 in EVC;CRMP1 gene and Weyers acrofacial dysostosis PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.