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ASCL2

Synonyms
ASH2, HASH2, MASH2, bHLHa45
External resources
Summary
This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.

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
12,523
Likely benign
192
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ASCL2 gene.

Phenotype class
Patients in 3billion (%)

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