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Variant (rsID / SNP)

rs34654141

SPTAN1

rs34654141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,351,105. 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
9:131351105
Cytoband
9q34.11
HGVS
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
Allele change
Silent

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 5|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.