Variant (rsID / SNP)

rs143664009

rs143664009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,153,450. Clinical significance in the table: Likely benign.

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Reference-table entries

KCNQ3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133153450
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala)
Allele change: Missense_V344A

Associated conditions / phenotypes

Benign neonatal seizures|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.