Variant (rsID / SNP)

rs794727128

rs794727128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,145,294. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN8APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52145294
Cytoband: 12q13.13
HGVS: NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)
Allele change: Missense_I763V

Associated conditions / phenotypes

SCN8A-related disorder|Early infantile epileptic encephalopathy with suppression bursts

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.