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RAB1A

Synonyms
RAB1, YPT1
External resources
Summary
This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms.

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
6,740
Likely benign
147
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RAB1A gene.

Phenotype class
Patients in 3billion (%)

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