Variant (rsID / SNP)

rs547887704

rs547887704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,073,897. Clinical significance in the table: Likely benign.

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Reference-table entries

KCNQ2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:62073897
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.691-13G>A
Allele change: Silent

Associated conditions / phenotypes

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.