Variant (rsID / SNP)

rs114095081

rs114095081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,141,822. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNQ3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133141822
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)
Allele change: Missense_P649H

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.