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TRAPPC6A

Synonyms
TRS33
External resources
Summary
This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,358
Likely benign
1,451
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TRAPPC6A gene.

Phenotype class
Patients in 3billion (%)

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