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Variant (rsID / SNP)

rs374877247

KCNQ2

rs374877247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,050,965. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:62050965
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.1301+7C>T
Allele change
Silent

Associated conditions / phenotypes

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.