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FAM27D1
Chr 9family with sequence similarity 27 member D1
I cannot provide a clinical gene summary for FAM27D1 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the rules. To write an accurate clinical summary, I would need specific information about what the FAM27D1 protein does, what conditions result from mutations in this gene, and the inheritance pattern of those conditions.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FAM27D1?content-type=application/json&expand=1
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
43 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 40 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 43 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM27D1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools