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Variant (rsID / SNP)

rs145694123

SYNGAP1

rs145694123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,403,005. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SYNGAP1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:33403005
Cytoband
6p21.32
HGVS
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=)
Allele change
Synonymous_L196L

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 5|History of neurodevelopmental disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.