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Variant (rsID / SNP)

rs375587730

SYNGAP1

rs375587730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,410,912. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SYNGAP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:33410912
Cytoband
6p21.32
HGVS
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=)
Allele change
Synonymous_S861S

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.