Variant (rsID / SNP)

rs121918316

rs121918316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,408,564. Clinical significance in the table: Pathogenic.

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Reference-table entries

SYNGAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:33408564
Cytoband: 6p21.32
HGVS: NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
Allele change: Nonsense_R579X

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 5

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.