Variant: rs138815960 

    present in Gene: ZMYND10
    present in Chromosome: 3
    Position on Chromosome: 50345533
    Alleles of this Variant: A/C

rs138815960 in ZMYND10 gene and CILIARY DYSKINESIA, PRIMARY, 22 PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 29601588 2018 ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

rs138815960 in ZMYND10 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

rs138815960 in ZMYND10 gene and Ciliary Motility Disorders PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.