Variant (rsID / SNP)

rs199472918

rs199472918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,826. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150648826
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
Allele change: Missense_L212S

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype|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.