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HES6

Synonyms
C-HAIRY1, HES-6, bHLHb41, bHLHc23
External resources
Summary
This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.

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
14,621
Likely benign
6,891
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HES6 gene.

Phenotype class
Patients in 3billion (%)

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