FERRY3
Chr 12ARFERRY endosomal RAB5 effector complex subunit 3
Also known as: C12orf4, Fy-3, MRT66
This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 54 | 0 | 56 |
Likely Pathogenic | 7 | 1 | 9 | 0 | 17 |
VUS | 1 | 9 | 10 | 0 | 20 |
Likely Benign | 0 | 1 | 3 | 7 | 11 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 10 | 11 | 77 | 7 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →FERRY3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools