RAB3GAP1 - Gene browser

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

HCNC Approved Symbol: RAB3GAP1 (HGNC:17063)
Genomic Coordinates: 2:135,052,292 - 135,176,396 (2q21.3)
Synonyms: RAB3GAP, KIAA0066, RAB3GAP130, WARBM1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the RAB3GAP1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count

Global developmental delay: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Microcephaly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Microcornea: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Cataracts, congenital: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hypomyelination: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)