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BRRIAR
Chr 3BHLHE40 and RIG-I regulating ITPR1 antisense RNA
I apologize, but I cannot write a clinical gene summary for BRRIAR because no information about this gene was provided in your message. To create an accurate summary following your strict requirements, I would need specific data about the protein function, associated diseases, inheritance patterns, and any relevant clinical features or constraint metrics for this gene.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BRRIAR?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
111 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 | 1 | 0 | 37 | 0 | 38 |
Likely Pathogenic | 1 | 1 | 1 | 0 | 3 |
VUS | 0 | 30 | 4 | 1 | 35 |
Likely Benign | 0 | 0 | 14 | 13 | 27 |
Benign | 0 | 0 | 4 | 0 | 4 |
Conflicting | — | 3 | |||
| Total | 2 | 31 | 60 | 14 | 110 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BRRIAR · 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