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Variant (rsID / SNP)

rs201328910

KCNQ3

rs201328910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,141,798. 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
8:133141798
Cytoband
8q24.22
HGVS
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)
Allele change
Missense_R657Q

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.