Home > Gene Browser > BAZ1B

BAZ1B

Synonyms
WBSCR10, WBSCR9, WSTF
External resources
Summary
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
9,041
Likely benign
3,332
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on BAZ1B gene.

Phenotype class
Patients in 3billion (%)

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