Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs118192194

KCNQ2

rs118192194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,078,122. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNQ2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:62078122
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
Allele change
Missense_S122L

Associated conditions / phenotypes

Seizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 7|Seizures, benign familial neonatal, 1|KCNQ2-Related Disorders

Public references

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