Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143678590

KCNT1

rs143678590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,664,769. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:138664769
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
Allele change
Synonymous_S739S

Associated conditions / phenotypes

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.