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Variant (rsID / SNP)

rs372998864

KCNT1

rs372998864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,648,745. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:138648745
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
Allele change
Synonymous_L189L

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.