rs530120061
This variant is located in the CFAP54 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitterAbout CFAP54
Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Jul 2025]
View all CFAP54 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…