Variant (rsID / SNP)

rs370521183

rs370521183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,667,192. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:138667192
Cytoband: 9q34.3
HGVS: NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)
Allele change: Synonymous_I760I

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 14

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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