Variant (rsID / SNP)

rs121912513

rs121912513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,645,954. 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: 7:150645954
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile)
Allele change: Missense_N521I

Associated conditions / phenotypes

Long QT syndrome 2|Long QT syndrome 2/5, digenic|Congenital 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.