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SYNGAP1

From SNPedia
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# SNPs45
 Max MagnitudeChromosome positionSummary
rs10575181788.833,440,768
rs10575181838.833,438,425
rs10575183528.833,432,787
rs1057518786033,441,374
rs1057518796033,443,752
rs10575194008.833,440,960
rs10575194058.833,440,737
rs1057519545033,435,225
rs1057519546033,432,806
rs1057524025033,437,827
rs10605033788.833,438,072
rs10605033838.833,441,318
rs1060503384033,441,612
rs10605033868.833,440,913
rs1064792984033,441,363
rs1064795331033,440,769
rs1064795645033,440,815
rs10647960338.833,443,779
rs10647964038.833,444,506
rs10647965478.833,443,468
rs1064797322033,435,306
rs10853078718.833,432,769
rs1219183158.833,432,709
rs1219183168.833,440,787
rs3975146708.833,440,737
rs3975147418.833,432,724
rs3975153208.833,442,990
rs5877804708.833,440,834
rs587780473033,440,835
rs5877804748.833,443,154
rs786205649033,435,176
rs7970450128.833,432,683
rs7970460288.833,438,819
rs7970460298.833,441,325
rs7970460308.833,446,584
rs7970460318.833,435,614
rs8632249308.833,437,801
rs8693126748.833,446,569
rs8693126778.833,446,780
rs8693129558.833,446,710
rs875989808033,444,529
rs8792537628.833,443,130
rs929609233,510,719
rs939415233,497,705

The SYNGAP1 gene, located on chromosome 6, provides instructions for making SynGAP, a protein with an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the "wiring" in the circuitry of the brain. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein's function is particularly important during a critical period of early brain development that affects future cognitive ability.GHR

SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene, most of which appear to be dominant and de novo. SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment, estimated to account for 1 to 2 percent of intellectual disability cases.GHR

The Bridge the Gap – SYNGAP – Education and Research Foundation is a nonprofit to serve, educate and fund research for families coping with the effects of SYNGAP mutations, and it includes a patient registry.