TTLL5 - Gene browser | 3billion

TTLL5

TTLL5

tubulin tyrosine ligase like 5

HCNC Approved Symbol: TTLL5 (HGNC:19963)
Genomic Coordinates: 14:75,661,246 - 75,955,079 (14q24.3)
Synonyms: STAMP, KIAA0998
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the TTLL5 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Retinitis pigmentosa: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Cone rod dystrophy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

TTLL5 - Gene browser | 3billion