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Variant (rsID / SNP)

rs117067974

KCNQ2

rs117067974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,045,527. 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
20:62045527
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
Allele change
Missense_E515D

Associated conditions / phenotypes

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

Public references

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