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Variant (rsID / SNP)

rs118192251

KCNQ3

rs118192251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,186,542. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNQ3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:133186542
Cytoband
8q24.22
HGVS
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
Allele change
Missense_R210C

Associated conditions / phenotypes

Seizures, benign familial neonatal, 2|Benign neonatal seizures

Public references

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