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RAB3C

Synonyms
-
External resources
Summary
This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
674
Likely benign
103
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on RAB3C gene.

Phenotype class
Patients in 3billion (%)

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