Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs748400155

KCNQ2

rs748400155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,038,287. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:62038287
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
Allele change
Missense_P777S

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Continuous spike and waves during slow sleep

Public references

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