Variant (rsID / SNP)

rs187002252

rs187002252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,156,281. 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: 12:52156281
Cytoband: 12q13.13
HGVS: NM_001330260.2(SCN8A):c.2371-6A>G
Allele change: Silent

Associated conditions / phenotypes

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.