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HYI

Synonyms
HT036
External resources
Summary
This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
3,580
Likely benign
3,771
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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