CFAP418 - Gene browser

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.

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

01
Patient count

Abnormal retinal morphology: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Ird: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Retinal disease: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Visual impairment: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)