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MBNL3

Synonyms
CHCR, MBLX, MBLX39, MBXL
External resources
Summary
This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants 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
2,113
Likely benign
156
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MBNL3 gene.

Phenotype class
Patients in 3billion (%)

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