AGBL5 - Gene browser | 3billion

AGBL5

AGBL5

AGBL carboxypeptidase 5

HCNC Approved Symbol: AGBL5 (HGNC:26147)
Genomic Coordinates: 2:27,050,364 - 27,070,618 (2p23.3)
Synonyms: FLJ21839, CCP5
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 AGBL5 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

Retinitis pigmentosa: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Cystic macular degeneration: 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

AGBL5 - Gene browser | 3billion