rs1434804006

This variant is located in the TBC1D32 gene.

ClinVar annotation

Likely Pathogenic☆☆☆
1 submitter1 publication

TBC1D32-related disorder

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About TBC1D32

This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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