Variant (rsID / SNP)

rs118192254

rs118192254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,141,666. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNQ3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:133141666
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
Allele change: Missense_N701S

Associated conditions / phenotypes

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

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.