Variant (rsID / SNP)

rs200948972

rs200948972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,343,295. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPTAN1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:131343295
Cytoband: 9q34.11
HGVS: NM_001130438.3(SPTAN1):c.1418A>G (p.Tyr473Cys)
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.