Variant: rs140451304 

    present in Gene: CFAP410
    present in Chromosome: 21
    Position on Chromosome: 44333188
    Alleles of this Variant: C/G;T

rs140451304 in CFAP410 gene and Spondylometaphyseal dysplasia, axial PMID 27548899 2016 Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

PMID 26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

PMID 26974433 2016 Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

PMID 28422394 2017 Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.