Gene entry
SYNGAP1
synaptic Ras GTPase activating protein 1
- Chromosome
- 6
- Cytoband
- 6p21.32
- Variants (rsID)
- 14
SYNGAP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.32). Its official name is “synaptic Ras GTPase activating protein 1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs145694123Benignsingle nucleotide variantIntellectual disability, autosomal dominant 5|History of neurodevelopmental disorder
- rs191549504Benignsingle nucleotide variantIntellectual disability, autosomal dominant 5|History of neurodevelopmental disorder
- rs411136Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 5
- rs375587730Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 5|History of neurodevelopmental disorder
- rs397514670Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 5|Inborn genetic diseases|Complex neurodevelopmental disorder|SYNGAP1-related developmental and epileptic encephalopathy
- rs869312674Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 5|Intellectual disability
- rs121918316Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 5
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.