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GOSR1

Synonyms
GOLIM2, GOS-28, GOS28, GOS28/P28, GS28, P28
External resources
Summary
This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found 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
1,623
Likely benign
6,557
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GOSR1 gene.

Phenotype class
Patients in 3billion (%)

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