Variant (rsID / SNP)

rs777916008

rs777916008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,039,761. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNQ2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:62039761
Cytoband: 20q13.33
HGVS: NM_172107.4(KCNQ2):c.1887+5G>A
Allele change: Silent

Associated conditions / phenotypes

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

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.