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Variant (rsID / SNP)

rs118192203

KCNQ2

rs118192203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,076,065. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:62076065
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
Allele change
Missense_R213W

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts|Seizures, benign familial neonatal, 1

Public references

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