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TVP23A

Synonyms
FAM18A, YDR084C
External resources
Summary
This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants.

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
9,153
Likely benign
846
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TVP23A gene.

Phenotype class
Patients in 3billion (%)

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