Variant (rsID / SNP)
rs886063507
rs886063507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,381,273. Clinical significance in the table: Likely benign.
Reference-table entries
SPTAN1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:131381273
- Cytoband
- 9q34.11
- HGVS
- NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=)
- Allele change
- Silent
Associated conditions / phenotypes
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.