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Variant (rsID / SNP)

rs587777264

KCNT1

rs587777264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,651,532. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNT1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:138651532
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
Allele change
Missense_G288S

Associated conditions / phenotypes

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

Public references

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