Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs6706924

SCN2A

rs6706924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,245,821. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166245821
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)
Allele change
Synonymous_N1835N

Associated conditions / phenotypes

Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11

Public references

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