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SYNGAP1 synaptic Ras GTPase activating protein 1

Also known as: MRD5; RASA1; RASA5; SYNGAP


The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009]

Associated conditions

See all available tests in GTR for this gene

Mental retardation, autosomal dominant 5
MedGen: C2675473OMIM: 612621GeneReviews: Not available
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Copy number response

Copy number response

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 6; NC_000006.12 (33420070..33453689)
Total number of exons:


  • BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SYNGAP1 database

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