FRG1
Chr 4FSHD region gene 1
Also known as: FRG1A, FSG1
The FRG1 protein binds mRNA and localizes to the nucleolus where it may regulate pre-mRNA splicing, ribosomal subunit assembly, and mRNA transport. Mutations cause facioscapulohumeral muscular dystrophy (FSHD), a progressive muscle disorder primarily affecting facial, shoulder, and upper arm muscles. The gene shows minimal constraint against loss-of-function variants and inheritance patterns vary depending on the specific genomic rearrangements involved in FSHD.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FRG1 · 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