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Variant (rsID / SNP)

rs35450031

KCNQ2

rs35450031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,044,877. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNQ2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
20:62044877
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
Allele change
Synonymous_D563D

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 7|Seizure|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.