rs1365254688

This variant is located in the DNAAF11 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Primary ciliary dyskinesia 19; Primary ciliary dyskinesia

View on ClinVar →

About DNAAF11

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

View all DNAAF11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…