CCDC88C

CCDC88C

coiled-coil domain containing 88C

HCNC Approved Symbol: CCDC88C (HGNC:19967)
Genomic Coordinates: 14:91,271,323 - 91,417,820 (14q32.11-q32.12)
Synonyms: DAPLE, HkRP2, SCA40, KIAA1509
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CCDC88C gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Gait disturbance: 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%)

Last updated: 2024-06-30