Variant (rsID / SNP)

rs730880116

rs730880116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,655,378. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150655378
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)
Allele change: Nonsense_E229X

Associated conditions / phenotypes

Long QT syndrome 2|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.