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Variant (rsID / SNP)

rs147132904

SPTAN1

rs147132904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,388,212. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTAN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:131388212
Cytoband
9q34.11
HGVS
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
Allele change
Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Generalized tonic-clonic seizures|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.