AGBL5
HGNC:26147 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
3Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in AGBL5 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| retinitis pigmentosa | — | 2 | 2 |
| retinal dystrophy | HP:0000556 | 1 | 1 |
| mucopolysaccharidosis | HP:0008155 | 1 | 1 |
Linked variants
Variants normalized to AGBL5| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Arg125Trp | p.Arg125Trp | 1 | 1 |
| c.730-22_730-19dup | c.730-22_730-19dup | 1 | 1 |
| p.Pro429Leu | p.Pro429Leu | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 292 | 1 |
Supporting publications
2 records- 2022Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.Clinics and practicePubMed ↗
- 2016Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗