HYLS1 Chromosome 11
HYLS1 centriolar and ciliogenesis associated
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What This Gene Does
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
Associated Conditions (2)
Hydrolethalus syndrome
Inborn genetic diseases
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375332939 | Health Risk | Conflicting classifications of pathogenicity | Hydrolethalus syndrome, Inborn genetic diseases, Hydrolethalus syndrome |
| RS1296929975 | Health Risk | Pathogenic | — |
| RS776702167 | Health Risk | Pathogenic | — |