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RABL2B

Synonyms
-
External resources
Summary
The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene.

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
2,416
Likely benign
686
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RABL2B gene.

Phenotype class
Patients in 3billion (%)

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