Variant (rsID / SNP)

rs201382073

rs201382073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,644,066. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:150644066
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr)
Allele change: Missense_A737T

Associated conditions / phenotypes

Long QT syndrome|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.