LRIF1 Chromosome 1

Ligand dependent nuclear receptor interacting factor 1

1 variant 1 Health Risk

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What This Gene Does

Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (2)

Facioscapulohumeral muscular dystrophy 3

digenic

Key Variants

RS2101110148

Pathogenic

Facioscapulohumeral muscular dystrophy 3, digenic, Facioscapulohumeral muscular dystrophy 3

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2101110148	Health Risk	Pathogenic	Facioscapulohumeral muscular dystrophy 3, digenic, Facioscapulohumeral muscular dystrophy 3