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Variant (rsID / SNP)

rs151272083

KCNT1

rs151272083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,670,668. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNT1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:138670668
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
Allele change
Missense_R910Q

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 14|Seizure|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.