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TJAP1

Synonyms
PILT, TJP4
External resources
Summary
This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome.

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
19,853
Likely benign
3,799
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TJAP1 gene.

Phenotype class
Patients in 3billion (%)

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