Variant (rsID / SNP)
rs200137341
rs200137341 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,606,458. Clinical significance in the table: Likely benign.
Reference-table entries
KCNT1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:138606458
- Cytoband
- 9q34.3
- HGVS
- NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser)
- Allele change
- Missense_T49S
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 14|Autosomal dominant nocturnal frontal lobe epilepsy 5|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.