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Variant (rsID / SNP)

rs397515407

KCNT1

rs397515407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,657,034. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNT1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:138657034
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
Allele change
Missense_R398Q

Associated conditions / phenotypes

Autosomal dominant nocturnal frontal lobe epilepsy 5|Developmental and epileptic encephalopathy, 14|Autosomal dominant nocturnal frontal lobe epilepsy 5|Developmental and epileptic encephalopathy, 14|Epilepsy syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.