Variant (rsID / SNP)

rs118192233

rs118192233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,044,935. Clinical significance in the table: Benign.

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Reference-table entries

KCNQ2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:62044935
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.1632-1G>T
Allele change: Silent

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.