rs1057515994

This variant is located in the BRWD3 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Intellectual disability, X-linked 93

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About BRWD3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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