Home > Gene Browser > RAB5C

RAB5C

Synonyms
L1880, RAB5CL, RAB5L, RABL
External resources
Summary
Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996

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
1,054
Likely benign
664
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on RAB5C gene.

Phenotype class
Patients in 3billion (%)

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