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CFAP418

cilia and flagella associated protein 418

HCNC Approved Symbol
CFAP418 (HGNC:27232)
Genomic Coordinates
8:95,244,913 - 95,269,201 (8q22.1)
Synonyms
FLJ30600, CORD16, RP64, BBS21, FAP418, MOT25., SMALLTALK, C8orf37
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CFAP418 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abnormal retinal morphology
 1 (100.0%)
Ird
 1 (100.0%)
Retinal disease
 1 (100.0%)
Visual impairment
 1 (100.0%)
CFAP418 - Gene browser | 3billion