Variant: rs397515363 

    present in Gene: FAM219A;DNAI1
    present in Chromosome: 9
    Position on Chromosome: 34459054
    Alleles of this Variant: -/T

rs397515363 in FAM219A;DNAI1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

rs397515363 in FAM219A;DNAI1 gene and Ciliary Motility Disorders PMID 26918822 2016 DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

PMID 18434704 2008 DNAI1 mutations explain only 2% of primary ciliary dykinesia.

PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

PMID 29363216 2018 Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.