Variant (rsID / SNP)

rs554833870

rs554833870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,142,170. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133142170
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg)
Allele change: Missense_Q533R

Associated conditions / phenotypes

Benign neonatal seizures|Benign Neonatal Epilepsy|Seizure|Seizures, benign familial neonatal, 2

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.