Variant (rsID / SNP)

rs200307006

rs200307006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,093,398. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN8ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:52093398
Cytoband: 12q13.13
HGVS: NM_001330260.2(SCN8A):c.751C>T (p.Leu251=)
Allele change: Synonymous_L251L

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder

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.