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FSHD3

Chr 1Digenic recessive

ligand dependent nuclear receptor interacting factor 1

Also known as: C1orf103, FSHD3, HBiX1, RIF1

Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in Barr body; chromosome, telomeric region; and nucleoplasm. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Facioscapulohumeral muscular dystrophy 3, digenicMIM #619477
Digenic recessive
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FSHD3?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

FSHD3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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