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synaptic Ras GTPase activating protein 1


Approved Name: synaptic Ras GTPase activating protein 1
SYNGAP1 aliases: SYNGAP, RASA5, KIAA1938
Chromosomal Location: 6p21.32
HGNC: HGNC:11497
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
19.65 Haploinsufficiency Score (Decipher)
1 Probability of Being LoF Intolerant (gnomAD)
Last Updated: Dec 31, 2019
Gene Reviews


Patient ID * Disorder(s) Variant Type Inheritance Method Chromosome * Start Coordinate * End Coordinate * CNV Size * Genome Build * Coding DNA Change * Protein Change * Position * Reference Sequence * Alternate Sequence * Reference


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