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SYNGAP1 - synaptic Ras GTPase activating protein 1
- Synonym(s) : KIAA1938, RASA5, SYNGAP
- Previous symbols and names : Synaptic Ras GTPase activating protein 1 homolog (rat), synaptic Ras GTPase activating protein 1 homolog (rat)
- Type : gene with protein product
- Chromosomal location : 6p21.32
- OMIM: 603384
- HGNC: 11497
- UniProtKB: Q96PV0
- Genatlas: SYNGAP1
- GenCC: SYNGAP1
- Ensembl: ENSG00000197283
- IUPHAR-DB: -
- Reactome: Q96PV0
- LOVD: SYNGAP1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 
- Disease-causing germline mutation(s) in Myoclonic-astatic epilepsy
ORPHA:1942 - Disease-causing germline mutation(s) in SYNGAP1-related developmental and epileptic encephalopathy
ORPHA:544254 - Candidate gene tested in Non-specific early-onset epileptic encephalopathy
ORPHA:442835
: AssessedAdditional information
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