Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

C14ORF104 C469Y

(C14ORF104 Cys469Tyr)

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

GeneTests

GeneTests records for the C14ORF104 gene
Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia10: C14orf104-Related Primary Ciliary
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/C14ORF104