Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs397514670

SYNGAP1

rs397514670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNGAP1. Location: chromosome 6, position 33,408,514. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SYNGAP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:33408514
Cytoband
6p21.32
HGVS
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
Allele change
Missense_P562L

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 5|Inborn genetic diseases|Complex neurodevelopmental disorder|SYNGAP1-related developmental and epileptic encephalopathy

Public references

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