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TGOLN2

Synonyms
TGN38, TGN46, TGN48, TGN51, TTGN2, hTGN46, hTGN48, hTGN51
External resources
Summary
This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. 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
1,930
Likely benign
511
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TGOLN2 gene.

Phenotype class
Patients in 3billion (%)

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