Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs796053216

SCN8A

rs796053216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,184,185. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN8APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:52184185
Cytoband
12q13.13
HGVS
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
Allele change
Missense_G1434R

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Epileptic encephalopathy|Developmental and epileptic encephalopathy, 13|Epilepsy

Public references

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