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Variant (rsID / SNP)

rs1057516099

KCNQ2

rs1057516099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,070,977. 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
20:62070977
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
Allele change
Missense_G301S

Associated conditions / phenotypes

Epileptic encephalopathy|Developmental and epileptic encephalopathy, 7|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.