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Variant (rsID / SNP)

rs28939684

KCNQ2

rs28939684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,076,062. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNQ2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:62076062
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
Allele change
Missense_R214W

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.