Variant (rsID / SNP)

rs191549504

rs191549504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,411,673. Clinical significance in the table: Benign.

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Reference-table entries

SYNGAP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:33411673
Cytoband: 6p21.32
HGVS: NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr)
Allele change: Missense_I1115T

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 5|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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