Variant (rsID / SNP)
rs2228951
rs2228951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,370,474. Clinical significance in the table: Benign.
Reference-table entries
SPTAN1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:131370474
- Cytoband
- 9q34.11
- HGVS
- NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=)
- Allele change
- Silent
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.