Variant (rsID / SNP)

rs143683496

rs143683496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,152,327. 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: 8:133152327
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile)
Allele change: Missense_V402I

Associated conditions / phenotypes

Seizures, benign familial neonatal, 2|Benign neonatal seizures

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.