Variant (rsID / SNP)

rs145204452

rs145204452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,142,049. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:133142049
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)
Allele change: Synonymous_P573P

Associated conditions / phenotypes

Benign neonatal seizures|Benign Neonatal Epilepsy|Seizures, benign familial neonatal, 2

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.