VPS35L Chromosome 16
VPS35 endosomal protein sorting factor like
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What This Gene Does
Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Retriever complex
Locus Type
gene with protein product
Location
16p12.3
Ensembl
ENSG00000103544
Associated Conditions (1)
Ritscher-Schinzel syndrome 3
Key Variants
RS2506837428
Likely pathogenic
Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
Health Risk
RS1972596669
Pathogenic
Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
Health Risk
RS2506943395
Pathogenic
Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
Health Risk
RS574948701
Pathogenic
Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
Health Risk
RS747119819
Pathogenic
Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2506837428 | Health Risk | Likely pathogenic | Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3 |
| RS1972596669 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3 |
| RS2506943395 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3 |
| RS574948701 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3 |
| RS747119819 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3 |