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BRD8

Synonyms
SMAP, SMAP2, p120
External resources
Summary
The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified.

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
12,761
Likely benign
5,639
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BRD8 gene.

Phenotype class
Patients in 3billion (%)

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