rs1554571048

This variant is located in the BAZ1B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About BAZ1B

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. [provided by RefSeq, Jul 2008]

View all BAZ1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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