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CCDC40

coiled-coil domain 40 molecular ruler complex subunit

HCNC Approved Symbol
CCDC40 (HGNC:26090)
Genomic Coordinates
17:80,036,642 - 80,100,613 (17q25.3)
Synonyms
FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172, CFAP172
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the CCDC40 gene.

Frequently observed phenotypes

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

Coughing
 1 (25.0%)
Pneumonia
 1 (25.0%)
Situs inversus
 1 (25.0%)
Arterial hypoxemia
 1 (25.0%)
Dry cough
 1 (25.0%)
CCDC40 - Gene browser | 3billion