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HYLS1

Synonyms
HLS
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,690
Likely benign
2,877
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HYLS1 gene.

Phenotype class
Patients in 3billion (%)

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