Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs117217073

SCN8A

rs117217073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,162,823. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN8AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:52162823
Cytoband
12q13.13
HGVS
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
Allele change
Missense_R1026C

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 13

Public references

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