Variant (rsID / SNP)

rs267607197

rs267607197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,608,920. Clinical significance in the table: Likely benign.

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Reference-table entries

KCNQ1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:2608920
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.1249G>A (p.Val417Met)
Allele change: Missense_V417M

Associated conditions / phenotypes

Cardiac arrhythmia

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.