rs2543679001

This variant is located in the TRAPPC2L gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis

About TRAPPC2L

This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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