Variant (rsID / SNP)

rs796053130

rs796053130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,229,832. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:166229832
Cytoband: 2q24.3
HGVS: NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val)
Allele change: Missense_A1316V

Associated conditions / phenotypes

Epileptic encephalopathy

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.