RSPH4A - Gene browser | 3billion

RSPH4A

RSPH4A

radial spoke head component 4A

HCNC Approved Symbol: RSPH4A (HGNC:21558)
Genomic Coordinates: 6:116,616,479 - 116,632,985 (6q22.1)
Synonyms: dJ412I7.1, FLJ37974, RSPH6B, CILD11, RSHL3
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 RSPH4A gene.

Frequently observed phenotypes(Top 5 only)

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

04
Patient count

Wet cough: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Purulent rhinitis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Recurrent chest infections: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Ciliary dyskinesia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)

Last updated: 2024-06-30

RSPH4A - Gene browser | 3billion