Warburg micro syndrome 1
OMIM:600118Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | RAB3GAP1 |
|---|---|
| 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. |