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Variant (rsID / SNP)

rs869312674

SYNGAP1

rs869312674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,414,346. 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
6:33414346
Cytoband
6p21.32
HGVS
NM_006772.3(SYNGAP1):c.3583-6G>A
Allele change
Silent

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 5|Intellectual disability

Public references

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