rs1254519873

This variant is located in the TBC1D32 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Inborn genetic diseases

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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