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Variant (rsID / SNP)

rs201051863

KCNT1

rs201051863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,606,428. Clinical significance in the table: Benign.

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Reference-table entries

KCNT1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
9:138606428
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
Allele change
Missense_P39L

Associated conditions / phenotypes

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

Public references

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