RAB3GAP1
Gene name: RAB3 GTPase activating protein subunit 1 (catalytic)OMIM ID: 602536
Chromosome location: 2q21.3
Mutations
| Disease/Phenotype | Warburg micro syndrome 1 |
|---|---|
| Reference transcript | NM_001172435.1 |
| DNA Change | c.475_478delACTG |
| A.A. Change | Frameshift and premature protein truncation |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, et al.Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar;37(3):221-3. |