rs773223790

This variant is located in the ABR gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ABR

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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