Variant (rsID / SNP)

rs794728364

rs794728364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,654,411. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150654411
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)
Allele change: Nonsense_R366X

Associated conditions / phenotypes

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.