Variant (rsID / SNP)
rs750943685
rs750943685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,870,386. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166870386
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=)
- Allele change
- Silent
Associated conditions / phenotypes
Migraine, familial hemiplegic, 3|Epilepsy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.