Variant (rsID / SNP)
rs6432860
rs6432860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,897,864. Clinical significance in the table: Benign.
Reference-table entries
SCN1ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166897864
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
- Allele change
- Synonymous_V753V
Associated conditions / phenotypes
Generalized epilepsy with febrile seizures plus|Epilepsy|Migraine, familial hemiplegic, 3|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.