Variant (rsID / SNP)

rs74582884

rs74582884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,146,616. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNQ3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133146616
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
Allele change: Missense_P454S

Associated conditions / phenotypes

Benign neonatal seizures|Benign Neonatal Epilepsy|Seizures, benign familial neonatal, 2|Seizure|Intellectual disability

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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