Gene entry
NHLRC1
NHL repeat containing E3 ubiquitin protein ligase 1
- Chromosome
- 6
- Cytoband
- 6p22.3
- Variants (rsID)
- 7
NHLRC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p22.3). Its official name is “NHL repeat containing E3 ubiquitin protein ligase 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs10949480Benignsingle nucleotide variantLafora disease
- rs187783545Benignsingle nucleotide variantLafora disease|Seizure
- rs28940575Pathogenicsingle nucleotide variantEpilepsy, progressive myoclonic 2b|Lafora disease
- rs28940576Pathogenicsingle nucleotide variantEpilepsy, progressive myoclonic 2b|Lafora disease
- rs587776542PathogenicDeletionEpilepsy, progressive myoclonic 2b|Lafora disease
- rs200201752Uncertain significancesingle nucleotide variantLafora disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.