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MSC

Synonyms
ABF-1, ABF1, MYOR, bHLHa22
External resources
Summary
The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway.

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
325
Likely benign
79
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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