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Variant (rsID / SNP)

rs149960236

KCNT1

rs149960236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,656,975. 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
9:138656975
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
Allele change
Synonymous_V378V

Associated conditions / phenotypes

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