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Variant (rsID / SNP)

rs147173555

KCNQ3

rs147173555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,142,134. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNQ3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:133142134
Cytoband
8q24.22
HGVS
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)
Allele change
Missense_S545L

Associated conditions / phenotypes

Seizures, benign familial neonatal, 2|Seizure|Benign neonatal seizures

Public references

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