Variant (rsID / SNP)

rs1801545

rs1801545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,046,278. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:62046278
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
Allele change: Synonymous_A501A

Associated conditions / phenotypes

Seizures, benign familial neonatal, 1|Seizure|Early infantile epileptic encephalopathy with suppression bursts

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.