Variant (rsID / SNP)

rs185511111

rs185511111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ3. Location: chromosome 8, position 133,142,243. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNQ3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:133142243
Cytoband: 8q24.22
HGVS: NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe)
Allele change: Missense_V509L

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.