Variant (rsID / SNP)

rs118192249

rs118192249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,187,708. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:133187708
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg)
Allele change: Missense_W189R

Associated conditions / phenotypes

Seizures, benign familial neonatal, 2

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.