Variant (rsID / SNP)

rs104894021

rs104894021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,717. 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: 7:150648717
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys)
Allele change: Missense_N248K

Associated conditions / phenotypes

Short QT syndrome type 1|Short 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.