Variant (rsID / SNP)

rs118192216

rs118192216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,070,003. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:62070003
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)
Allele change: Missense_R333Q

Associated conditions / phenotypes

Seizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts

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.