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HES5

Synonyms
bHLHb38
External resources
Summary
This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer.

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
1,984
Likely benign
810
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HES5 gene.

Phenotype class
Patients in 3billion (%)

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