Variant (rsID / SNP)

rs796052657

rs796052657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,059,777. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 20:62059777
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 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.