Variant (rsID / SNP)

rs118192218

rs118192218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,065,223. The table records no clinical significance for this variant.

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Reference-table entries

KCNQ2Not classified

Variant type: single nucleotide variant
Chromosome / position: 20:62065223
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)
Allele change: Missense_R353G

Associated conditions / phenotypes

Seizures, benign familial neonatal, 1

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.