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MYF6

Synonyms
CNM3, MRF4, bHLHc4, myf-6
External resources
Summary
The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM).

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
11,625
Likely benign
337
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MYF6 gene.

Phenotype class
Patients in 3billion (%)

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