Variant (rsID / SNP)

rs199473524

rs199473524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,643. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNH2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150648643
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
Allele change: Missense_T273M

Associated conditions / phenotypes

Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1|Long QT syndrome 2

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.