01
At a glance
Association overview
02
Provenance
Evidence and sources
03
LOC109461479
The gene
04
Huntington Disease
The disorder
05
Phenotype
Clinical features
06
ClinVar and variant evidence
Genetic basis
08
Provenance
The association between LOC109461479 (Huntingtin Repeat Instability Region) and Huntington Disease is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.