Variant (rsID / SNP)

rs142830725

rs142830725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,387,431. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTAN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:131387431
Cytoband: 9q34.11
HGVS: NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)
Allele change: Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5

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.