Variant (rsID / SNP)

rs199472997

rs199472997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,647,292. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

KCNH2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150647292
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)
Allele change: Missense_E448K

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome

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.